A6NJL1
Gene name |
ZSCAN5B |
Protein name |
Zinc finger and SCAN domain-containing protein 5B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:342933 |
EC number |
|
Protein Class |
|

Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for A6NJL1
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-A6NJL1-F1 | Predicted | AlphaFoldDB |
626 variants for A6NJL1
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA9687620 rs760539327 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
CA407624498 rs1337957554 |
3 | A>T | No |
ClinGen gnomAD |
|
CA407624457 rs1431847542 |
5 | W>* | No |
ClinGen gnomAD |
|
CA9687619 rs772948603 |
5 | W>C | No |
ClinGen ExAC gnomAD |
|
CA9687617 rs749510969 |
6 | T>K | No |
ClinGen ExAC gnomAD |
|
rs771889363 CA9687618 |
6 | T>P | No |
ClinGen ExAC gnomAD |
|
CA407624430 rs1328158781 |
7 | L>F | No |
ClinGen gnomAD |
|
rs1408162272 CA407624426 |
7 | L>P | No |
ClinGen gnomAD |
|
CA9687614 rs61745809 |
8 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1568585729 CA407624418 |
8 | S>P | No |
ClinGen Ensembl |
|
rs1384913136 CA407624377 |
10 | G>A | Variant assessed as Somatic; 5.145e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA407624379 rs1384913136 |
10 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA9687612 rs745957412 |
10 | G>S | No |
ClinGen ExAC gnomAD |
|
rs757903505 CA9687610 |
11 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA9687611 rs781350323 |
11 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA9687609 rs571770602 |
13 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407624341 rs1238142884 |
13 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs551826201 CA9687608 |
14 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA407624307 rs1276532323 |
15 | C>* | No |
ClinGen TOPMed gnomAD |
|
rs1275651442 CA407624310 |
15 | C>Y | No |
ClinGen gnomAD |
|
CA9687607 rs758761780 |
17 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs80228467 CA9687605 |
19 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687606 rs752967962 |
19 | G>R | No |
ClinGen ExAC gnomAD |
|
CA407624248 rs752967962 |
19 | G>W | No |
ClinGen ExAC gnomAD |
|
CA9687604 rs528776961 |
20 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs753351356 CA9687603 |
21 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407624222 rs1439316661 |
21 | D>H | No |
ClinGen gnomAD |
|
rs765870687 CA9687602 |
22 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407624199 rs765870687 |
22 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773169405 CA9687600 |
23 | P>A | No |
ClinGen ExAC gnomAD |
|
CA407624169 rs368732521 |
24 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368732521 CA9687597 |
24 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687599 rs761690422 |
24 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 25 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407624161 rs1397344594 |
25 | S>P | No |
ClinGen gnomAD |
|
rs1468654772 CA407624133 |
26 | V>A | No |
ClinGen gnomAD |
|
rs1176704230 CA407624148 |
26 | V>M | No |
ClinGen gnomAD |
|
rs776907331 CA9687594 |
27 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776907331 CA9687595 |
27 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778377838 CA9687591 |
28 | S>C | No |
ClinGen ExAC gnomAD |
|
CA407624088 rs1487406327 |
29 | P>R | No |
ClinGen TOPMed |
|
TCGA novel | 34 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9687590 rs758787037 |
34 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310312980 rs374507565 |
36 | H>N | No |
ClinGen ESP |
|
rs368861394 CA310312973 |
37 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779182763 CA9687588 |
37 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1305781238 CA407623980 |
37 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs1305781238 CA407623982 |
37 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA9687585 rs765923750 |
38 | R>M | No |
ClinGen ExAC gnomAD |
|
rs201784103 CA9687586 |
38 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687583 rs749851397 |
39 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687582 rs767503640 |
39 | N>S | No |
ClinGen ExAC gnomAD |
|
rs761588691 CA9687581 |
40 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763964002 CA9687579 |
41 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687580 rs377038668 |
41 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687578 rs759883974 |
42 | T>S | No |
ClinGen ExAC gnomAD |
|
rs372771759 CA9687576 |
43 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372771759 CA9687575 |
43 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766142573 CA310312916 |
43 | W>R | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 43 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407623847 rs996342023 CA310312893 |
45 | M>I | No |
ClinGen Ensembl |
|
rs758081924 CA9687574 |
45 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748598330 CA9687571 |
48 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407623801 rs748598330 |
48 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687570 rs779309402 |
50 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407623758 rs1222302064 |
50 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA407623768 rs779309402 |
50 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201580249 CA9687569 |
50 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1321345441 CA407623738 |
52 | C>S | No |
ClinGen gnomAD |
|
CA407623727 rs779701702 |
53 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779701702 CA9687567 |
53 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687566 rs61742910 |
54 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407623716 rs1360974314 |
54 | E>K | No |
ClinGen gnomAD |
|
CA407623707 rs61742910 |
54 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201778233 CA9687564 |
56 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751517999 CA9687562 CA407623662 |
57 | D>E | No |
ClinGen ExAC gnomAD |
|
CA310312799 rs764017306 |
58 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764017306 CA9687561 |
58 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407623661 rs1380102381 |
58 | P>T | No |
ClinGen TOPMed |
|
rs752494863 CA9687559 |
59 | I>T | No |
ClinGen ExAC gnomAD |
|
CA407623636 rs1185097280 |
60 | Q>P | No |
ClinGen gnomAD |
|
rs1156501158 CA407623578 |
64 | K>N | No |
ClinGen TOPMed |
|
TCGA novel | 65 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760746165 CA9687556 |
65 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1014665727 CA310312758 |
66 | T>I | No |
ClinGen Ensembl |
|
CA407623494 rs1420808568 |
70 | H>R | No |
ClinGen gnomAD |
|
CA407623458 rs1568585503 |
72 | W>C | No |
ClinGen Ensembl |
|
TCGA novel | 74 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772032245 CA9687554 |
74 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687553 rs762358657 |
75 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1293216422 CA407623409 |
76 | D>G | No |
ClinGen gnomAD |
|
CA9687551 rs769100111 |
76 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA310312721 rs1055577295 |
77 | L>I | No |
ClinGen TOPMed gnomAD |
|
rs749665097 CA9687550 |
78 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407623385 rs1315583576 |
78 | H>Y | No |
ClinGen TOPMed |
|
rs769556292 CA9687548 |
79 | T>I | No |
ClinGen ExAC gnomAD |
|
CA9687549 rs769556292 |
79 | T>S | No |
ClinGen ExAC gnomAD |
|
CA9687545 rs756688268 |
82 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA310312666 rs928444687 |
83 | I>T | No |
ClinGen TOPMed |
|
rs199640897 CA9687544 |
85 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407623224 rs1430646035 |
87 | L>P | No |
ClinGen gnomAD |
|
CA407623192 rs1317730658 |
90 | E>K | No |
ClinGen TOPMed |
|
CA407623181 rs1390474261 |
90 | E>V | No |
ClinGen gnomAD |
|
rs1182562053 CA407623170 |
91 | Q>* | No |
ClinGen gnomAD |
|
rs1182562053 CA407623173 |
91 | Q>E | No |
ClinGen gnomAD |
|
CA407623163 rs1459627468 |
91 | Q>R | No |
ClinGen gnomAD |
|
CA407623115 CA310312650 rs267605711 |
93 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA9687543 rs777878569 |
93 | M>V | No |
ClinGen ExAC gnomAD |
|
CA9687542 rs758357215 |
95 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310312643 rs910323004 |
96 | M>T | No |
ClinGen TOPMed |
|
rs752550042 CA9687541 |
96 | M>V | No |
ClinGen ExAC gnomAD |
|
rs540995370 CA407623006 |
100 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs540995370 CA9687540 |
100 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs756418382 CA9687539 |
102 | V>A | No |
ClinGen ExAC gnomAD |
|
rs913229534 CA310312610 |
102 | V>I | No |
ClinGen Ensembl |
|
CA9687538 rs750590096 |
103 | L>S | No |
ClinGen ExAC gnomAD |
|
CA407622955 rs1184805837 |
104 | V>I | No |
ClinGen TOPMed |
|
CA9687537 rs767677558 |
105 | K>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA9687536 rs761902411 |
106 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA9687533 rs774355736 |
108 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1396616697 CA407622866 |
109 | V>M | No |
ClinGen gnomAD |
|
CA407622805 rs1396483065 |
111 | S>T | No |
ClinGen gnomAD |
|
rs764588873 CA9687532 |
113 | K>E | No |
ClinGen ExAC gnomAD |
|
rs376225698 CA9687531 |
113 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1442430072 CA407622724 |
114 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs775977090 CA9687530 |
114 | D>H | No |
ClinGen ExAC gnomAD |
|
rs368159881 CA9687528 |
117 | D>E | No |
ClinGen gnomAD |
|
rs1174870536 CA407622684 |
117 | D>N | No |
ClinGen TOPMed |
|
CA9687526 rs555339343 |
120 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA9687527 rs555339343 |
120 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687525 rs776177649 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1248418139 CA407622471 |
125 | P>S | No |
ClinGen gnomAD |
|
CA407622477 rs1248418139 |
125 | P>T | No |
ClinGen gnomAD |
|
rs1220466314 CA407622451 |
126 | K>E | No |
ClinGen gnomAD |
|
CA310312539 rs966890296 |
127 | K>I | No |
ClinGen TOPMed gnomAD |
|
rs1332681055 CA407622360 |
128 | W>* | No |
ClinGen TOPMed gnomAD |
|
CA9687524 rs770661446 |
128 | W>L | No |
ClinGen ExAC gnomAD |
|
CA9687500 rs778749176 |
129 | S>A | No |
ClinGen ExAC gnomAD |
|
rs1341260803 CA407621493 |
129 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA9687497 rs779818478 |
130 | I>M | No |
ClinGen ExAC gnomAD |
|
rs377108542 CA9687498 |
130 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687496 rs757532980 |
131 | V>A | No |
ClinGen ExAC gnomAD |
|
CA407621457 rs1448979260 |
131 | V>I | No |
ClinGen Ensembl |
|
rs777866839 CA9687494 |
132 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687495 rs201287910 |
132 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1322127617 CA407621392 |
133 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 134 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407621359 rs752770185 |
135 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687490 rs760024728 |
135 | G>D | No |
ClinGen ExAC gnomAD |
|
CA9687492 rs752770185 |
135 | G>S | Variant assessed as Somatic; 4.701e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA9687491 rs760024728 |
135 | G>V | No |
ClinGen ExAC gnomAD |
|
CA310311686 rs889049411 |
136 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA9687489 rs754226023 |
137 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407621273 rs1462864033 |
138 | Y>S | No |
ClinGen TOPMed |
|
TCGA novel | 139 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407621208 rs1364026855 |
140 | M>I | No |
ClinGen TOPMed |
|
CA9687486 rs760454195 |
140 | M>R | No |
ClinGen ExAC gnomAD |
|
CA407621199 rs1190722258 |
141 | L>M | No |
ClinGen gnomAD |
|
rs1190722258 CA407621197 |
141 | L>V | No |
ClinGen gnomAD |
|
CA9687485 rs772970086 |
142 | N>Y | No |
ClinGen ExAC gnomAD |
|
CA9687481 rs200245477 |
146 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687482 rs200245477 |
146 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687479 rs779873349 |
147 | M>K | No |
ClinGen ExAC gnomAD |
|
rs779873349 CA9687480 |
147 | M>R | No |
ClinGen ExAC gnomAD |
|
CA9687477 rs745618274 |
149 | E>D | No |
ClinGen ExAC gnomAD |
|
rs557945620 CA9687478 |
149 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687475 rs758586182 |
150 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687476 rs758586182 |
150 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752726658 CA9687474 |
150 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1228709192 CA407620961 |
151 | P>T | No |
ClinGen gnomAD |
|
rs750769570 CA9687468 |
152 | A>D | No |
ClinGen ExAC gnomAD |
|
CA9687469 rs201505305 |
152 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687471 rs201505305 |
152 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201505305 CA9687470 |
152 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs979738164 CA310311556 |
153 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA9687466 rs761520915 |
156 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767280492 CA9687467 |
156 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407620809 rs1467102400 |
157 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs200834771 CA9687465 |
158 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9687463 rs762833792 |
159 | R>K | No |
ClinGen ExAC gnomAD |
|
CA9687462 rs375625371 |
160 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1165126304 CA407620727 |
160 | D>V | No |
ClinGen TOPMed |
|
CA9687459 rs780900122 |
161 | V>E | No |
ClinGen ExAC gnomAD |
|
rs780900122 CA310311411 |
161 | V>G | No |
ClinGen ExAC gnomAD |
|
CA9687460 rs745673351 |
161 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745673351 CA310311450 |
161 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1214366532 CA407620685 |
162 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA407620701 rs1599937968 |
162 | S>P | No |
ClinGen Ensembl |
|
CA9687458 rs772250951 |
163 | S>T | No |
ClinGen ExAC gnomAD |
|
CA9687456 rs778908799 |
165 | W>* | No |
ClinGen ExAC |
|
CA310311379 rs920668228 |
165 | W>L | No |
ClinGen TOPMed gnomAD |
|
rs748390488 CA9687457 |
165 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687455 rs755057979 |
166 | A>T | No |
ClinGen ExAC gnomAD |
|
CA407620519 rs1568584935 |
166 | A>V | No |
ClinGen Ensembl |
|
rs1289124402 CA407620474 |
168 | S>F | No |
ClinGen gnomAD |
|
CA407620389 rs1379225184 |
170 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA407620394 rs1599937881 |
170 | N>T | No |
ClinGen Ensembl |
|
CA407620361 rs1278939601 |
171 | Q>P | No |
ClinGen gnomAD |
|
CA9687453 rs73617565 |
173 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs73617565 CA9687452 |
173 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407620300 rs1439965238 |
173 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs750881936 CA9687451 |
174 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 174 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs756905021 CA9687449 |
175 | G>E | No |
ClinGen ExAC gnomAD |
|
CA310311271 rs1033220481 |
176 | T>I | No |
ClinGen Ensembl |
|
CA407620176 rs1599937795 |
177 | G>A | No |
ClinGen Ensembl |
|
CA407620186 rs1407198845 |
177 | G>S | No |
ClinGen gnomAD |
|
rs1000289615 CA407620148 |
178 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1599937775 CA407620155 |
178 | Q>R | No |
ClinGen Ensembl |
|
rs199497935 CA9687445 |
179 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407620145 rs762546328 |
179 | A>P | No |
ClinGen ExAC gnomAD |
|
CA9687446 rs762546328 |
179 | A>T | No |
ClinGen ExAC gnomAD |
|
rs199497935 CA9687444 |
179 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776469184 CA9687443 |
180 | R>C | No |
ClinGen ExAC gnomAD |
|
CA9687442 rs776469184 |
180 | R>G | No |
ClinGen ExAC gnomAD |
|
rs149023772 CA9687440 |
180 | R>H | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
CA310311193 rs776469184 |
180 | R>S | No |
ClinGen ExAC gnomAD |
|
CA310311152 rs770738589 |
181 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770738589 CA9687439 |
181 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407620059 rs1244662861 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA407619993 rs748363198 |
183 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748363198 CA9687438 |
183 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774668553 CA9687437 |
183 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768714816 CA9687436 |
184 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs749394978 CA9687435 |
185 | I>T | No |
ClinGen ExAC gnomAD |
|
CA9687434 rs780274944 |
186 | L>M | No |
ClinGen ExAC gnomAD |
|
CA9687432 rs564228455 |
187 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
VAR_042965 rs527025 CA9687433 |
187 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781445948 CA9687431 |
189 | V>F | No |
ClinGen ExAC gnomAD |
|
rs757976812 CA9687428 |
190 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687427 rs757976812 |
190 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764715168 CA9687425 |
191 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1160548267 CA407619742 |
193 | S>C | No |
ClinGen gnomAD |
|
rs1160548267 CA407619745 |
193 | S>F | No |
ClinGen gnomAD |
|
rs759519458 CA9687424 |
194 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1009971818 CA310310991 |
194 | R>K | No |
ClinGen TOPMed |
|
TCGA novel | 194 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9687422 rs369294779 |
195 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687420 rs760543987 |
196 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA9687396 rs187117582 |
198 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1053008479 CA310309642 |
199 | D>Y | No |
ClinGen TOPMed |
|
rs1354331175 CA407618869 |
201 | L>P | No |
ClinGen gnomAD |
|
CA310309624 rs754007779 |
203 | H>Q | No |
ClinGen gnomAD |
|
rs375207851 CA9687395 |
204 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs1390353708 CA407618833 |
204 | K>R | No |
ClinGen gnomAD |
|
rs747459699 CA9687393 |
206 | I>T | No |
ClinGen ExAC gnomAD |
|
CA407618804 rs1421511462 |
206 | I>V | No |
ClinGen gnomAD |
|
VAR_042966 rs4801296 CA9687390 |
208 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs4801296 CA9687391 |
208 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407618768 rs1344608460 |
210 | G>C | No |
ClinGen gnomAD |
|
CA9687387 rs754570826 |
210 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1344608460 CA407618770 |
210 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA9687386 rs753397261 |
211 | D>E | No |
ClinGen ExAC gnomAD |
|
CA407618765 rs1013813516 |
211 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA310309541 rs1013813516 |
211 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs779428730 CA9687385 |
212 | P>T | No |
ClinGen ExAC gnomAD |
|
CA310309511 rs1031133591 |
213 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1397130460 CA407618751 |
213 | N>S | No |
ClinGen gnomAD |
|
TCGA novel | 213 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9687384 rs756124087 |
214 | S>F | No |
ClinGen ExAC gnomAD |
|
rs370187858 CA9687382 |
215 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370187858 CA9687383 |
215 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1162533569 CA407618737 |
216 | R>* | No |
ClinGen gnomAD |
|
CA9687379 rs765560736 |
217 | P>H | No |
ClinGen ExAC gnomAD |
|
CA407618728 rs765560736 |
217 | P>R | No |
ClinGen ExAC gnomAD |
|
rs371929091 CA9687376 |
219 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687375 rs371929091 |
219 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687374 rs182542443 |
220 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1369022521 CA407618705 |
221 | L>S | No |
ClinGen gnomAD |
|
CA310309462 rs1007221198 |
221 | L>V | No |
ClinGen TOPMed |
|
CA407618700 rs1568584250 |
222 | E>K | No |
ClinGen Ensembl |
|
CA407618678 rs1252889739 |
224 | D>E | No |
ClinGen gnomAD |
|
CA407618680 rs1483240398 |
224 | D>V | No |
ClinGen gnomAD |
|
rs138814857 CA310309459 |
227 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1568584232 CA407618656 |
228 | N>D | No |
ClinGen Ensembl |
|
CA407618646 rs1354431723 |
229 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA9687372 rs772519247 |
230 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 234 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768365934 CA9687369 |
236 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687370 VAR_042967 rs10425951 |
236 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748867852 CA9687368 |
237 | S>T | No |
ClinGen ExAC gnomAD |
|
rs779651718 CA9687367 |
240 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1343958405 CA407618396 |
241 | Q>* | No |
ClinGen TOPMed |
|
rs755607045 CA9687366 |
243 | P>T | No |
ClinGen ExAC gnomAD |
|
CA9687364 rs745329452 |
245 | S>T | No |
ClinGen ExAC gnomAD |
|
rs781291132 CA407618248 |
246 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687363 rs781291132 |
246 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687334 rs148712200 |
249 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA407618047 rs1347572909 |
249 | V>L | No |
ClinGen gnomAD |
|
rs373310586 CA310308817 |
250 | R>G | No |
ClinGen gnomAD |
|
CA9687333 rs767574259 |
251 | A>V | No |
ClinGen ExAC gnomAD |
|
rs146106972 CA9687332 |
252 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774868070 CA407617978 |
254 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA9687331 rs774868070 |
254 | G>V | No |
ClinGen ExAC gnomAD |
|
CA9687330 rs764608415 |
255 | K>R | No |
ClinGen ExAC gnomAD |
|
CA407617947 rs1332110627 |
256 | E>D | No |
ClinGen gnomAD |
|
CA9687329 rs763236482 |
257 | P>L | No |
ClinGen ExAC gnomAD |
|
CA9687328 rs200668027 |
258 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407617930 rs200668027 |
258 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407617922 rs1167657430 |
258 | Q>P | No |
ClinGen gnomAD |
|
CA407617885 rs1388499021 |
260 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA9687327 rs769399458 |
261 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA9687326 rs759248787 |
262 | S>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 262 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776328317 CA9687325 |
263 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776328317 CA407617849 |
263 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407617835 rs1186025761 |
264 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs953149484 CA310308774 |
264 | E>G | No |
ClinGen Ensembl |
|
rs1186025761 CA407617839 |
264 | E>K | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 265 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1030451167 CA310308769 |
267 | D>G | No |
ClinGen Ensembl |
|
CA407617787 rs1446867044 |
267 | D>Y | No |
ClinGen TOPMed |
|
CA407617747 rs1295551619 |
269 | D>E | No |
ClinGen gnomAD |
|
CA9687323 rs746479299 |
270 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1187067691 CA407617735 |
270 | T>K | No |
ClinGen TOPMed |
|
rs777595160 CA9687322 |
271 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1228590732 CA407617709 |
272 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs778769940 CA9687320 |
274 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1355022306 CA407617677 |
274 | C>Y | No |
ClinGen gnomAD |
|
CA9687318 rs368972539 |
275 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1367427617 CA407617654 |
276 | V>M | No |
ClinGen TOPMed |
|
rs750625193 CA9687317 |
278 | R>K | No |
ClinGen ExAC gnomAD |
|
CA407617609 rs1455934397 |
279 | E>* | No |
ClinGen TOPMed |
|
CA9687316 rs746453618 |
279 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 280 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9687314 rs111915100 |
281 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687313 rs751576360 |
282 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310308715 rs965310195 |
282 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs1014812713 CA310308706 |
283 | H>Y | No |
ClinGen TOPMed |
|
rs370255759 CA310308690 |
284 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687310 rs375696908 |
285 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687311 rs763510836 |
285 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407617497 rs1247097342 |
286 | N>D | No |
ClinGen TOPMed |
|
CA9687308 rs759301098 |
286 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs61742634 CA9687309 |
286 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1181964280 | 286 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs370488746 CA9687307 |
287 | R>* | No |
ClinGen ESP ExAC TOPMed |
|
rs61742633 CA407617469 |
287 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687306 rs61742633 |
287 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687305 rs373709117 |
289 | D>G | No |
ClinGen ESP ExAC TOPMed |
|
rs1229486771 CA407617405 |
290 | A>D | No |
ClinGen gnomAD |
|
CA407617409 rs1287171449 |
290 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA9687300 rs778624757 |
294 | S>N | No |
ClinGen ExAC gnomAD |
|
rs537939197 CA9687299 |
294 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687298 rs61742626 |
295 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs61742626 CA310308634 |
295 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687297 rs781402187 |
295 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1407124852 CA407617284 |
296 | P>A | No |
ClinGen gnomAD |
|
CA407617280 rs1419297482 |
296 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA407617272 rs1159059665 |
297 | K>E | No |
ClinGen gnomAD |
|
CA9687296 rs200350099 |
298 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687295 rs376632539 |
299 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 300 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9687293 rs758876741 |
301 | P>A | No |
ClinGen ExAC gnomAD |
|
rs758876741 CA9687294 |
301 | P>T | No |
ClinGen ExAC gnomAD |
|
CA9687291 rs765623944 |
303 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 303 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407617073 rs892183 |
304 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs892183 VAR_042968 CA9687290 |
304 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 304 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407617041 rs1267488399 |
305 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA9687286 rs527687405 |
306 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9687288 rs985624377 |
306 | I>V | No |
ClinGen Ensembl |
|
rs1330322382 CA407616962 |
307 | S>F | No |
ClinGen TOPMed |
|
CA407616967 rs1599935969 |
307 | S>P | No |
ClinGen Ensembl |
|
CA407616959 rs1599935958 |
308 | Q>K | No |
ClinGen Ensembl |
|
CA9687285 rs561737213 |
309 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9687283 rs138952005 |
310 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687284 rs376623371 |
310 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687282 rs767033662 |
312 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs761699319 CA9687281 |
313 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA407616804 rs761699319 |
313 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs946436166 CA310308545 |
314 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs774364516 CA9687280 |
314 | E>K | No |
ClinGen ExAC gnomAD |
|
CA9687279 rs768519708 |
316 | T>I | No |
ClinGen ExAC gnomAD |
|
rs775258352 CA9687277 |
317 | P>L | No |
ClinGen ExAC gnomAD |
|
CA9687278 rs749082900 |
317 | P>S | No |
ClinGen ExAC gnomAD |
|
rs771199766 CA9687276 |
318 | V>L | No |
ClinGen ExAC gnomAD |
|
CA310308494 rs868504737 |
319 | G>S | No |
ClinGen Ensembl |
|
rs200312845 CA9687274 |
320 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1192556365 CA407616632 |
320 | N>S | No |
ClinGen gnomAD |
|
CA310308482 rs956194253 |
321 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs1186075472 CA407616585 |
322 | E>V | No |
ClinGen gnomAD |
|
CA407616556 rs1568583778 |
323 | S>Y | No |
ClinGen Ensembl |
|
CA407616531 rs1357161900 |
324 | P>A | No |
ClinGen TOPMed |
|
CA310308442 rs866818453 |
325 | G>E | No |
ClinGen Ensembl |
|
rs924753526 CA310308437 |
326 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA310308436 rs981650137 |
327 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs779578992 CA9687269 |
328 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407616420 rs755476251 |
329 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA407616394 rs1296994632 |
331 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA9687267 rs754322367 |
332 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201080393 CA9687265 |
333 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201080393 CA9687266 |
333 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407616348 rs1202414125 |
334 | S>F | No |
ClinGen TOPMed |
|
CA407616357 rs1599935804 |
334 | S>P | No |
ClinGen Ensembl |
|
CA407616318 rs761397978 |
336 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 336 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1357795748 CA407616330 |
336 | G>S | No |
ClinGen gnomAD |
|
CA9687262 rs761397978 |
336 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1422845249 CA407616307 |
337 | P>S | No |
ClinGen TOPMed |
|
CA9687261 rs577337778 |
338 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9687259 rs762863306 |
339 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745610141 CA9687256 |
340 | P>A | No |
ClinGen ExAC gnomAD |
|
CA9687254 rs201658700 |
340 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201658700 CA9687255 |
340 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687252 rs200285996 |
342 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407616160 rs1370248612 |
344 | P>A | No |
ClinGen TOPMed |
|
CA407616158 rs1370248612 |
344 | P>S | No |
ClinGen TOPMed |
|
rs192204188 CA407616117 CA9687250 |
345 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1297237184 CA407616120 |
345 | D>V | No |
ClinGen TOPMed |
|
CA9687249 rs201048831 |
346 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756536979 CA9687248 |
347 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1246534676 CA407616030 |
349 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA9687246 rs780897554 |
349 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407616034 rs1246534676 |
349 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA407616017 rs1489390125 |
350 | K>E | No |
ClinGen TOPMed |
|
CA407615991 rs1315208494 |
351 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA407615983 rs1315208494 |
351 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs200185124 CA9687243 |
353 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs200185124 CA407615935 |
353 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407614759 rs1373157387 |
354 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA310308293 rs370054206 |
355 | F>S | No |
ClinGen ESP TOPMed |
|
rs765109263 CA9687240 |
356 | A>G | No |
ClinGen ExAC gnomAD |
|
rs752662164 CA9687241 |
356 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 356 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407614676 rs1188438622 |
357 | C>W | No |
ClinGen gnomAD |
|
CA407614628 rs373469763 CA407614621 |
359 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687237 rs373469763 |
359 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 360 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407614528 rs1299354376 |
362 | K>T | No |
ClinGen TOPMed |
|
CA310308244 rs558592538 |
363 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687235 rs558592538 |
363 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1227258364 CA407614494 |
364 | F>L | No |
ClinGen TOPMed |
|
CA407614416 rs1320489547 |
367 | F>C | No |
ClinGen gnomAD |
|
rs760753515 | 368 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA9687232 rs749343598 |
369 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs61738499 CA9687230 |
369 | Q>L | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
rs1214198682 CA407614356 |
370 | L>P | No |
ClinGen TOPMed |
|
CA9687229 rs189564920 |
371 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1392805919 CA407614291 |
373 | H>R | No |
ClinGen gnomAD |
|
rs1306493014 CA407614304 |
373 | H>Y | No |
ClinGen gnomAD |
|
rs746308013 CA9687227 |
374 | R>M | No |
ClinGen ExAC gnomAD |
|
CA407614256 rs1242925813 |
375 | R>S | No |
ClinGen TOPMed |
|
rs781394649 CA9687226 |
375 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751179494 CA9687223 |
376 | S>* | No |
ClinGen ExAC gnomAD |
|
CA9687222 rs751179494 |
376 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1472551073 CA9687224 |
376 | S>P | No |
ClinGen TOPMed |
|
CA407614236 rs1165544566 |
377 | H>P | No |
ClinGen gnomAD |
|
CA407614235 rs1165544566 |
377 | H>R | No |
ClinGen gnomAD |
|
rs757925411 CA9687220 |
378 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1184028394 CA407614214 |
378 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1184028394 CA407614217 |
378 | T>R | No |
ClinGen TOPMed gnomAD |
|
rs1209389561 CA407614186 |
380 | D>E | No |
ClinGen gnomAD |
|
rs765226401 CA9687217 |
380 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765226401 CA9687218 |
380 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407614183 rs1321573026 |
381 | R>G | No |
ClinGen TOPMed |
|
rs753726468 CA9687215 |
382 | P>H | No |
ClinGen ExAC gnomAD |
|
CA407614160 rs753726468 |
382 | P>L | No |
ClinGen ExAC gnomAD |
|
rs759389883 CA9687216 |
382 | P>S | No |
ClinGen ExAC gnomAD |
|
CA9687214 rs766069558 |
385 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774749340 CA9687212 |
385 | C>W | No |
ClinGen ExAC gnomAD |
|
CA9687213 rs762169707 |
385 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754455296 CA310308173 |
386 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs754455296 CA407614113 |
386 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA9687211 rs768954497 |
387 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1336026289 CA407614096 |
387 | L>V | No |
ClinGen gnomAD |
|
rs754134274 CA310308172 |
388 | C>F | No |
ClinGen TOPMed gnomAD |
|
CA310308166 rs991612622 |
388 | C>W | No |
ClinGen TOPMed gnomAD |
|
rs763126036 CA407614070 |
389 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763126036 CA9687210 |
389 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA9687209 rs534584381 |
391 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA9687208 rs770387386 |
391 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA407614043 rs534584381 |
391 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407614029 rs1348135040 |
392 | F>V | No |
ClinGen TOPMed gnomAD |
|
rs1284914390 CA407614026 |
392 | F>Y | No |
ClinGen gnomAD |
|
rs1240576788 CA407613979 |
395 | P>T | No |
ClinGen gnomAD |
|
CA310308122 rs376043891 |
396 | S>L | No |
ClinGen ESP TOPMed |
|
CA9687205 rs368461762 |
396 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781649225 CA9687204 |
397 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 397 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1004237302 CA310308089 |
398 | L>F | No |
ClinGen TOPMed |
|
CA9687201 rs377383565 |
399 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9687202 rs377383565 |
399 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687200 rs202218504 |
399 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687199 rs202218504 |
399 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs754994212 CA9687197 |
401 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs866453339 CA310308052 |
401 | H>Y | No |
ClinGen gnomAD |
|
rs755999950 CA9687194 |
402 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs766301991 CA9687196 |
402 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766301991 CA310308030 |
402 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687195 rs766301991 |
402 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687192 rs370368173 |
403 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687193 rs370368173 |
403 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs536136249 CA9687191 |
403 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1599935355 CA407613859 |
404 | V>A | No |
ClinGen Ensembl |
|
rs775684875 CA9687190 |
404 | V>I | No |
ClinGen ExAC gnomAD |
|
CA9687189 rs765199417 |
405 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1372671415 CA407613839 |
406 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1303526818 CA407613830 |
406 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1303526818 CA407613834 |
406 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs1372671415 CA407613837 |
406 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA407613808 rs1279972797 |
408 | E>D | No |
ClinGen TOPMed |
|
rs777025790 CA9687187 |
408 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407613794 rs1421897513 |
409 | R>S | No |
ClinGen gnomAD |
|
CA310307980 rs1023518162 |
409 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA9687186 rs568142667 |
411 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9687183 CA310307958 rs771771953 |
412 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687185 rs16987048 VAR_042969 |
412 | M>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9687184 rs201854779 |
412 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA310307943 rs752766741 |
413 | C>F | No |
ClinGen ExAC gnomAD |
|
CA9687181 rs373044394 |
413 | C>W | No |
ClinGen ESP ExAC TOPMed |
|
CA9687182 rs752766741 |
413 | C>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 414 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9687180 rs754481102 |
414 | D>V | No |
ClinGen ExAC gnomAD |
|
rs756113274 CA9687177 |
415 | V>G | No |
ClinGen ExAC gnomAD |
|
rs779872877 CA9687178 |
415 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1448014087 CA407613694 |
417 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs1448014087 CA407613691 |
417 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA9687175 rs375504592 |
418 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407613660 rs1199038977 |
418 | K>T | No |
ClinGen gnomAD |
|
CA9687171 rs201951462 |
419 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687172 rs201951462 |
419 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687173 rs200350280 |
419 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687168 rs548863728 CA310307845 |
420 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200971173 CA9687167 |
421 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687165 rs748509099 |
422 | H>L | No |
ClinGen ExAC gnomAD |
|
rs772396860 CA9687166 |
422 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA407613638 rs748509099 |
422 | H>R | No |
ClinGen ExAC gnomAD |
|
CA407613640 rs772396860 |
422 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA407613629 rs768301311 |
423 | E>A | No |
ClinGen ExAC gnomAD |
|
rs768301311 CA9687163 |
423 | E>G | No |
ClinGen ExAC gnomAD |
|
rs773901141 CA9687164 |
423 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1169683055 CA407613616 |
424 | S>P | No |
ClinGen gnomAD |
|
CA407613597 rs1476040124 |
425 | T>N | No |
ClinGen gnomAD |
|
rs201750979 CA9687160 |
426 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA310307771 rs916110839 |
426 | L>S | No |
ClinGen TOPMed gnomAD |
|
CA407613570 rs1486853979 |
427 | Q>E | No |
ClinGen gnomAD |
|
CA407613565 rs1257856226 |
427 | Q>R | No |
ClinGen gnomAD |
|
CA9687157 rs757139080 |
428 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs552592069 CA9687158 |
428 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9687156 rs751310477 |
429 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407613535 rs751310477 |
429 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1355604344 CA407613520 |
430 | K>* | No |
ClinGen gnomAD |
|
rs1282352855 CA407613516 |
430 | K>R | No |
ClinGen gnomAD |
|
CA407613494 rs1234972547 |
431 | R>S | No |
ClinGen gnomAD |
|
rs367925256 CA310307728 |
432 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687154 rs755225097 |
432 | I>V | No |
ClinGen ExAC |
|
rs761213546 CA9687152 |
433 | H>N | No |
ClinGen ExAC gnomAD |
|
CA407613468 rs1409476576 |
433 | H>R | No |
ClinGen gnomAD |
|
rs761213546 CA9687151 |
433 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA9687150 rs750962133 |
434 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687147 rs774715338 CA9687148 |
435 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1476436399 CA407613426 |
436 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA407613429 rs1163381663 |
436 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA407613415 rs768246770 |
437 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310307632 rs1037604229 |
437 | R>S | No |
ClinGen gnomAD |
|
CA9687146 rs768246770 |
437 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687144 rs376554687 |
438 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA310307627 rs376554687 |
438 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687145 rs560737137 |
438 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs745320840 CA9687142 |
439 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1270670403 CA407613387 |
439 | F>S | No |
ClinGen gnomAD |
|
rs1167931140 CA407613359 |
441 | C>S | No |
ClinGen TOPMed |
|
rs1568583125 CA407613345 |
441 | C>W | No |
ClinGen Ensembl |
|
rs746846417 CA9687139 |
443 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA407613314 rs1335350044 |
443 | Y>C | No |
ClinGen gnomAD |
|
rs1389931661 CA407613321 |
443 | Y>H | No |
ClinGen TOPMed |
|
TCGA novel | 444 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs777612001 CA9687138 |
444 | C>R | No |
ClinGen ExAC gnomAD |
|
CA9687137 rs754061720 |
444 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1371497905 CA407613300 |
444 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA9687135 rs200532865 |
446 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407613233 rs1330609851 |
448 | F>C | No |
ClinGen TOPMed gnomAD |
|
CA407613230 rs756211054 |
448 | F>L | No |
ClinGen ExAC gnomAD |
|
CA407613186 rs1463498704 |
451 | K>E | No |
ClinGen gnomAD |
|
rs376320315 CA310307526 |
451 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs750448003 CA9687133 |
451 | K>R | No |
ClinGen ExAC gnomAD |
|
rs867965431 CA310307505 |
452 | G>E | No |
ClinGen Ensembl |
|
CA407613147 rs1399318748 |
453 | N>K | No |
ClinGen gnomAD |
|
CA9687130 rs751914884 |
456 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA407613088 rs893522419 |
457 | H>L | No |
ClinGen TOPMed gnomAD |
|
CA310307493 rs893522419 |
457 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs764485473 CA9687129 |
459 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs764485473 CA407613061 |
459 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9687127 rs775303355 |
459 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs775303355 CA9687128 |
459 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407613057 rs775303355 |
459 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310307475 rs1034902039 |
460 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA407613046 rs1213460961 |
460 | T>N | No |
ClinGen gnomAD |
|
CA407613029 rs1318487280 |
461 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs371249672 CA407613015 |
462 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9687126 rs371249672 |
462 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 463 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs369165340 CA9687124 CA407613009 |
463 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs906231988 CA310307432 |
464 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA9687123 rs770832213 |
466 | P>L | No |
ClinGen ExAC gnomAD |
|
CA407612987 rs1456500013 |
466 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA9687122 rs746943693 |
467 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA407612964 rs1320463828 |
469 | C>F | No |
ClinGen gnomAD |
|
rs1568583009 CA407612969 |
469 | C>S | No |
ClinGen Ensembl |
|
CA407612953 rs1382939487 |
471 | T>P | No |
ClinGen TOPMed |
|
CA407612954 rs1382939487 |
471 | T>S | No |
ClinGen TOPMed |
|
CA9687118 rs561532194 |
473 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201511148 CA9687116 |
477 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201511148 CA407612903 |
477 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs746019486 CA9687115 |
477 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310307349 rs375190664 |
478 | Q>* | No |
ClinGen Ensembl |
|
CA9687113 rs757740694 |
480 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs998487181 CA310307319 |
482 | F>L | No |
ClinGen Ensembl |
|
CA9687111 rs370792202 |
484 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687112 rs370792202 |
484 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9687108 rs185491243 |
484 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
rs185491243 CA9687109 |
484 | R>L | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
CA310307253 rs1055930002 |
486 | L>P | No |
ClinGen TOPMed |
|
rs538102585 CA407612851 |
486 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407612842 rs1190060063 |
487 | K>N | No |
ClinGen TOPMed |
|
CA407612839 rs1242512786 |
488 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 488 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs941520414 CA310307244 |
488 | T>R | No |
ClinGen TOPMed |
|
rs888590071 CA310307236 |
489 | H>P | No |
ClinGen TOPMed |
|
CA9687105 rs373288645 |
490 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
CA9687102 rs370837981 |
490 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9687103 rs370837981 |
490 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373288645 CA9687104 |
490 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
rs1302476604 CA407612799 |
495 | Q>* | No |
ClinGen TOPMed |
No associated diseases with A6NJL1
5 regional properties for A6NJL1
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 416 - 689 | IPR000719 |
active_site | Serine/threonine-protein kinase, active site | 537 - 549 | IPR008271 |
domain | Wall-associated receptor kinase | 168 - 274 | IPR013695 |
conserved_site | EGF-like calcium-binding, conserved site | 304 - 331 | IPR018097 |
domain | Wall-associated receptor kinase, galacturonan-binding domain | 35 - 86 | IPR025287 |
1 GO annotations of cellular component
Name | Definition |
---|---|
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
Name | Definition |
---|---|
DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
metal ion binding | Binding to a metal ion. |
RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
1 GO annotations of biological process
Name | Definition |
---|---|
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
177 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q08DS3 | OSR1 | Protein odd-skipped-related 1 | Bos taurus (Bovine) | PR |
Q2VWH6 | FEZF2 | Fez family zinc finger protein 2 | Bos taurus (Bovine) | PR |
A6QNZ0 | ZSCAN26 | Zinc finger and SCAN domain-containing protein 26 | Bos taurus (Bovine) | PR |
A7MBI1 | ZFP69 | Zinc finger protein 69 homolog | Bos taurus (Bovine) | PR |
Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
O42409 | GFI1B | Zinc finger protein Gfi-1b | Gallus gallus (Chicken) | PR |
A2T6W2 | ZNF449 | Zinc finger protein 449 | Pan troglodytes (Chimpanzee) | PR |
Q9U405 | grau | Transcription factor grauzone | Drosophila melanogaster (Fruit fly) | PR |
Q7K0S9 | sug | Zinc finger protein GLIS2 homolog | Drosophila melanogaster (Fruit fly) | PR |
P20385 | Cf2 | Chorion transcription factor Cf2 | Drosophila melanogaster (Fruit fly) | PR |
Q86P48 | ATbp | AT-rich binding protein | Drosophila melanogaster (Fruit fly) | PR |
P28698 | MZF1 | Myeloid zinc finger 1 | Homo sapiens (Human) | PR |
Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
P49711 | CTCF | Transcriptional repressor CTCF | Homo sapiens (Human) | PR |
Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
Q13127 | REST | RE1-silencing transcription factor | Homo sapiens (Human) | PR |
Q8IZM8 | ZNF654 | Zinc finger protein 654 | Homo sapiens (Human) | PR |
Q14526 | HIC1 | Hypermethylated in cancer 1 protein | Homo sapiens (Human) | PR |
Q06889 | EGR3 | Early growth response protein 3 | Homo sapiens (Human) | PR |
Q08ER8 | ZNF543 | Zinc finger protein 543 | Homo sapiens (Human) | PR |
Q8N680 | ZBTB2 | Zinc finger and BTB domain-containing protein 2 | Homo sapiens (Human) | PR |
O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
Q96BV0 | ZNF775 | Zinc finger protein 775 | Homo sapiens (Human) | PR |
Q5FWF6 | ZNF789 | Zinc finger protein 789 | Homo sapiens (Human) | PR |
Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | Homo sapiens (Human) | PR |
Q6PG37 | ZNF790 | Zinc finger protein 790 | Homo sapiens (Human) | PR |
Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | Homo sapiens (Human) | PR |
Q9Y2D9 | ZNF652 | Zinc finger protein 652 | Homo sapiens (Human) | PR |
Q5TC79 | ZBTB37 | Zinc finger and BTB domain-containing protein 37 | Homo sapiens (Human) | PR |
Q9Y4E5 | ZNF451 | E3 SUMO-protein ligase ZNF451 | Homo sapiens (Human) | PR |
Q8ND82 | ZNF280C | Zinc finger protein 280C | Homo sapiens (Human) | PR |
Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
O43298 | ZBTB43 | Zinc finger and BTB domain-containing protein 43 | Homo sapiens (Human) | PR |
Q9Y330 | ZBTB12 | Zinc finger and BTB domain-containing protein 12 | Homo sapiens (Human) | PR |
Q13105 | ZBTB17 | Zinc finger and BTB domain-containing protein 17 | Homo sapiens (Human) | PR |
P51508 | ZNF81 | Zinc finger protein 81 | Homo sapiens (Human) | PR |
Q5JNZ3 | ZNF311 | Zinc finger protein 311 | Homo sapiens (Human) | PR |
Q9Y4X4 | KLF12 | Krueppel-like factor 12 | Homo sapiens (Human) | PR |
P10074 | ZBTB48 | Telomere zinc finger-associated protein | Homo sapiens (Human) | PR |
P17010 | ZFX | Zinc finger X-chromosomal protein | Homo sapiens (Human) | PR |
Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
Q9Y2L8 | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5 | Homo sapiens (Human) | PR |
Q86UZ6 | ZBTB46 | Zinc finger and BTB domain-containing protein 46 | Homo sapiens (Human) | PR |
Q8NCP5 | ZBTB44 | Zinc finger and BTB domain-containing protein 44 | Homo sapiens (Human) | PR |
P41182 | BCL6 | B-cell lymphoma 6 protein | Homo sapiens (Human) | PR |
Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
Q9BU19 | ZNF692 | Zinc finger protein 692 | Homo sapiens (Human) | PR |
Q08AG5 | ZNF844 | Zinc finger protein 844 | Homo sapiens (Human) | PR |
Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
P98182 | ZNF200 | Zinc finger protein 200 | Homo sapiens (Human) | PR |
Q9UK11 | ZNF223 | Zinc finger protein 223 | Homo sapiens (Human) | PR |
O15156 | ZBTB7B | Zinc finger and BTB domain-containing protein 7B | Homo sapiens (Human) | PR |
Q6ZMS7 | ZNF783 | Zinc finger protein 783 | Homo sapiens (Human) | PR |
P59923 | ZNF445 | Zinc finger protein 445 | Homo sapiens (Human) | PR |
Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
Q99612 | KLF6 | Krueppel-like factor 6 | Homo sapiens (Human) | PR |
Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
P52739 | ZNF131 | Zinc finger protein 131 | Homo sapiens (Human) | PR |
Q05215 | EGR4 | Early growth response protein 4 | Homo sapiens (Human) | PR |
Q7Z398 | ZNF550 | Zinc finger protein 550 | Homo sapiens (Human) | PR |
Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | Homo sapiens (Human) | PR |
Q96N20 | ZNF75A | Zinc finger protein 75A | Homo sapiens (Human) | PR |
A1YPR0 | ZBTB7C | Zinc finger and BTB domain-containing protein 7C | Homo sapiens (Human) | PR |
P24278 | ZBTB25 | Zinc finger and BTB domain-containing protein 25 | Homo sapiens (Human) | PR |
Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
A6NGD5 | ZSCAN5C | Zinc finger and SCAN domain-containing protein 5C | Homo sapiens (Human) | PR |
O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
P17029 | ZKSCAN1 | Zinc finger protein with KRAB and SCAN domains 1 | Homo sapiens (Human) | PR |
P49910 | ZNF165 | Zinc finger protein 165 | Homo sapiens (Human) | PR |
Q86XF7 | ZNF575 | Zinc finger protein 575 | Homo sapiens (Human) | PR |
Q8NAM6 | ZSCAN4 | Zinc finger and SCAN domain-containing protein 4 | Homo sapiens (Human) | PR |
Q969J2 | ZKSCAN4 | Zinc finger protein with KRAB and SCAN domains 4 | Homo sapiens (Human) | PR |
Q9H9D4 | ZNF408 | Zinc finger protein 408 | Homo sapiens (Human) | PR |
Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
Q9NPC7 | MYNN | Myoneurin | Homo sapiens (Human) | PR |
P17022 | ZNF18 | Zinc finger protein 18 | Homo sapiens (Human) | PR |
Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
O60304 | ZNF500 | Zinc finger protein 500 | Homo sapiens (Human) | PR |
Q9NX65 | ZSCAN32 | Zinc finger and SCAN domain-containing protein 32 | Homo sapiens (Human) | PR |
Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
O14771 | ZNF213 | Zinc finger protein 213 | Homo sapiens (Human) | PR |
O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
Q8IWY8 | ZSCAN29 | Zinc finger and SCAN domain-containing protein 29 | Homo sapiens (Human) | PR |
Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
Q8NF99 | ZNF397 | Zinc finger protein 397 | Homo sapiens (Human) | PR |
Q9NWS9 | ZNF446 | Zinc finger protein 446 | Homo sapiens (Human) | PR |
Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
Q9BRR0 | ZKSCAN3 | Zinc finger protein with KRAB and SCAN domains 3 | Homo sapiens (Human) | PR |
Q6NSZ9 | ZSCAN25 | Zinc finger and SCAN domain-containing protein 25 | Homo sapiens (Human) | PR |
P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
Q63HK3 | ZKSCAN2 | Zinc finger protein with KRAB and SCAN domains 2 | Homo sapiens (Human) | PR |
Q15776 | ZKSCAN8 | Zinc finger protein with KRAB and SCAN domains 8 | Homo sapiens (Human) | PR |
O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
Q61164 | Ctcf | Transcriptional repressor CTCF | Mus musculus (Mouse) | PR |
Q810A1 | Znf18 | Zinc finger protein 18 | Mus musculus (Mouse) | PR |
Q8BGS3 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Mus musculus (Mouse) | PR |
Q00899 | Yy1 | Transcriptional repressor protein YY1 | Mus musculus (Mouse) | PR |
P41183 | Bcl6 | B-cell lymphoma 6 protein homolog | Mus musculus (Mouse) | PR |
Q9DAI4 | Zbtb43 | Zinc finger and BTB domain-containing protein 43 | Mus musculus (Mouse) | PR |
O70237 | Gfi1b | Zinc finger protein Gfi-1b | Mus musculus (Mouse) | PR |
Q99KZ6 | Znf639 | Zinc finger protein 639 | Mus musculus (Mouse) | PR |
Q9Z1D9 | Znf394 | Zinc finger protein 394 | Mus musculus (Mouse) | PR |
Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | Mus musculus (Mouse) | PR |
P43300 | Egr3 | Early growth response protein 3 | Mus musculus (Mouse) | PR |
Q9DAU9 | Znf654 | Zinc finger protein 654 | Mus musculus (Mouse) | PR |
Q9R1Y5 | Hic1 | Hypermethylated in cancer 1 protein | Mus musculus (Mouse) | PR |
Q8R0T2 | Znf768 | Zinc finger protein 768 | Mus musculus (Mouse) | PR |
Q9WVG7 | Osr1 | Protein odd-skipped-related 1 | Mus musculus (Mouse) | PR |
Q8BI73 | Znf775 | Zinc finger protein 775 | Mus musculus (Mouse) | PR |
Q8VCZ7 | Zbtb7c | Zinc finger and BTB domain-containing protein 7C | Mus musculus (Mouse) | PR |
Q91VN1 | Znf24 | Zinc finger protein 24 | Mus musculus (Mouse) | PR |
Q9DB38 | Znf580 | Zinc finger protein 580 | Mus musculus (Mouse) | PR |
A7KBS4 | Zscan4d | Zinc finger and SCAN domain containing protein 4D | Mus musculus (Mouse) | PR |
Q91VW9 | Zkscan3 | Zinc finger protein with KRAB and SCAN domains 3 | Mus musculus (Mouse) | PR |
P10925 | Zfy1 | Zinc finger Y-chromosomal protein 1 | Mus musculus (Mouse) | PR |
P08046 | Egr1 | Early growth response protein 1 | Mus musculus (Mouse) | PR |
Q3TTC2 | Yy2 | Transcription factor YY2 | Mus musculus (Mouse) | PR |
Q3UTQ7 | Prdm10 | PR domain zinc finger protein 10 | Mus musculus (Mouse) | PR |
Q6P3Y5 | Znf280c | Zinc finger protein 280C | Mus musculus (Mouse) | PR |
Q9ERU3 | Znf22 | Zinc finger protein 22 | Mus musculus (Mouse) | PR |
Q8VIG1 | Rest | RE1-silencing transcription factor | Mus musculus (Mouse) | PR |
Q9Z1D8 | Zkscan5 | Zinc finger protein with KRAB and SCAN domains 5 | Mus musculus (Mouse) | PR |
Q8BID6 | Zbtb46 | Zinc finger and BTB domain-containing protein 46 | Mus musculus (Mouse) | PR |
P17012 | Zfx | Zinc finger X-chromosomal protein | Mus musculus (Mouse) | PR |
Q9WUK6 | Zbtb18 | Zinc finger and BTB domain-containing protein 18 | Mus musculus (Mouse) | PR |
O35738 | Klf12 | Krueppel-like factor 12 | Mus musculus (Mouse) | PR |
B2RXC5 | Znf382 | Zinc finger protein 382 | Mus musculus (Mouse) | PR |
O08900 | Ikzf3 | Zinc finger protein Aiolos | Mus musculus (Mouse) | PR |
Q5DU09 | Znf652 | Zinc finger protein 652 | Mus musculus (Mouse) | PR |
Q5RJ54 | Zscan26 | Zinc finger and SCAN domain-containing protein 26 | Mus musculus (Mouse) | PR |
Q8BLM0 | Klf8 | Krueppel-like factor 8 | Mus musculus (Mouse) | PR |
Q99JB0 | Klf7 | Krueppel-like factor 7 | Mus musculus (Mouse) | PR |
Q8R0A2 | Zbtb44 | Zinc finger and BTB domain-containing protein 44 | Mus musculus (Mouse) | PR |
P20662 | Zfy2 | Zinc finger Y-chromosomal protein 2 | Mus musculus (Mouse) | PR |
Q80VJ6 | Zscan4c | Zinc finger and SCAN domain containing protein 4C | Mus musculus (Mouse) | PR |
Q3URS2 | Zscan4f | Zinc finger and SCAN domain containing protein 4F | Mus musculus (Mouse) | PR |
Q60980 | Klf3 | Krueppel-like factor 3 | Mus musculus (Mouse) | PR |
Q8K3J5 | Znf131 | Zinc finger protein 131 | Mus musculus (Mouse) | PR |
Q9Z2K3 | Znf394 | Zinc finger protein 394 | Rattus norvegicus (Rat) | PR |
Q642B9 | Znf18 | Zinc finger protein 18 | Rattus norvegicus (Rat) | PR |
B0K011 | Osr1 | Protein odd-skipped-related 1 | Rattus norvegicus (Rat) | PR |
D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | Rattus norvegicus (Rat) | PR |
B1WBU4 | Zbtb8a | Zinc finger and BTB domain-containing protein 8A | Rattus norvegicus (Rat) | PR |
Q7TNK3 | Znf24 | Zinc finger protein 24 | Rattus norvegicus (Rat) | PR |
O35819 | Klf6 | Krueppel-like factor 6 | Rattus norvegicus (Rat) | PR |
Q9R1D1 | Ctcf | Transcriptional repressor CTCF | Rattus norvegicus (Rat) | PR |
P43301 | Egr3 | Early growth response protein 3 | Rattus norvegicus (Rat) | PR |
P08154 | Egr1 | Early growth response protein 1 | Rattus norvegicus (Rat) | PR |
A0JPL0 | Znf382 | Zinc finger protein 382 | Rattus norvegicus (Rat) | PR |
Q4KLI1 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Rattus norvegicus (Rat) | PR |
A1L1J6 | Znf652 | Zinc finger protein 652 | Rattus norvegicus (Rat) | PR |
Q9SHD0 | ZAT4 | Zinc finger protein ZAT4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q0P4X6 | zbtb44 | Zinc finger and BTB domain-containing protein 44 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
A4II20 | egr1 | Early growth response protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
Q6P882 | zbtb8a.2 | Zinc finger and BTB domain-containing protein 8A.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
Q567C6 | znf367 | Zinc finger protein 367 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
A7Y7X5 | znf711 | Zinc finger protein 711 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MAANWTLSWG | QGGPCNSPGS | DTPRSVASPE | TQLGNHDRNP | ETWHMNFRMF | SCPEESDPIQ |
70 | 80 | 90 | 100 | 110 | 120 |
ALRKLTELCH | LWLRPDLHTK | EQILDMLVME | QFMISMPQEL | QVLVKVNGVQ | SCKDLEDLLR |
130 | 140 | 150 | 160 | 170 | 180 |
NNRRPKKWSI | VNLLGKEYLM | LNSDVEMAEA | PASVRDDPRD | VSSQWASSVN | QMHPGTGQAR |
190 | 200 | 210 | 220 | 230 | 240 |
REQQILPRVA | ALSRRQGEDF | LLHKSIDVTG | DPNSPRPKQT | LEKDLKENRE | ENPGLSSPEP |
250 | 260 | 270 | 280 | 290 | 300 |
QLPKSPNLVR | AKEGKEPQKR | ASVENVDADT | PSACVVEREA | LTHSGNRGDA | LNLSSPKRSK |
310 | 320 | 330 | 340 | 350 | 360 |
PDASSISQEE | PQGEATPVGN | RESPGQAEIN | PVHSPGPAGP | VSHPDGQEAK | ALPPFACDVC |
370 | 380 | 390 | 400 | 410 | 420 |
NKSFKYFSQL | SIHRRSHTGD | RPFQCDLCRK | RFLQPSDLRV | HQRVHTGERP | YMCDVCQKRF |
430 | 440 | 450 | 460 | 470 | 480 |
AHESTLQGHK | RIHTGERPFK | CKYCSKVFSH | KGNLNVHQRT | HSGEKPYKCP | TCQKAFRQLG |
490 | |||||
TFKRHLKTHR | ETTSQ |