Q99856
Gene name |
ARID3A (DRIL1, DRIL3, DRX, E2FBP1) |
Protein name |
AT-rich interactive domain-containing protein 3A |
Names |
ARID domain-containing protein 3A, B-cell regulator of IgH transcription, Bright, Dead ringer-like protein 1, E2F-binding protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1820 |
EC number |
|
Protein Class |
|

Descriptions
RFX1 is a transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').
Autoinhibitory domains (AIDs)
Target domain |
238-331 (DNA-binding domain) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

3 structures for Q99856
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2KK0 | NMR | - | A | 218-351 | PDB |
4LJX | X-ray | 221 A | A/B | 216-351 | PDB |
AF-Q99856-F1 | Predicted | AlphaFoldDB |
523 variants for Q99856
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1484338581 CA402920942 |
5 | A>S | No |
ClinGen gnomAD |
|
CA402920962 rs1599379100 |
6 | V>G | No |
ClinGen Ensembl |
|
rs1384979178 CA402921001 |
9 | T>M | No |
ClinGen gnomAD |
|
CA9028944 rs775391208 |
16 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1157683802 CA402921072 |
16 | R>W | No |
ClinGen gnomAD |
|
CA9028945 rs762575709 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402921092 rs1381759794 |
18 | R>C | No |
ClinGen gnomAD |
|
CA9028946 rs763786581 |
18 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1351255252 CA402921120 |
20 | E>G | No |
ClinGen gnomAD |
|
rs773745826 CA303967318 |
24 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs972745936 CA402921159 |
24 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA303967319 rs972745936 |
24 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA9028947 rs773745826 |
24 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402921195 rs1282267735 |
27 | L>R | No |
ClinGen gnomAD |
|
rs1160823369 CA402921203 |
28 | P>L | No |
ClinGen TOPMed |
|
CA402921200 rs1242994523 |
28 | P>S | No |
ClinGen gnomAD |
|
CA9028948 rs761318578 |
29 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9028949 rs3746143 |
30 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9028950 rs3746143 |
30 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs920210954 CA303967336 |
31 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA303967346 rs760005633 |
32 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760005633 CA9028951 |
32 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402921248 rs1339384384 |
33 | A>P | No |
ClinGen gnomAD |
|
CA402921252 rs1405142146 |
33 | A>V | No |
ClinGen gnomAD |
|
rs765638846 CA402921261 |
34 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9028952 rs765638846 |
34 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402921274 rs1404830450 |
35 | P>L | No |
ClinGen gnomAD |
|
CA402921265 rs1207997767 |
35 | P>S | No |
ClinGen TOPMed |
|
rs1207997767 CA402921268 |
35 | P>T | No |
ClinGen TOPMed |
|
CA402921277 rs1270074412 |
36 | P>A | No |
ClinGen TOPMed |
|
rs17857499 CA303967352 VAR_033203 |
36 | P>H | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs17857499 CA9028954 |
36 | P>R | No |
ClinGen ExAC gnomAD |
|
CA402921279 rs1270074412 |
36 | P>S | No |
ClinGen TOPMed |
|
CA402921288 rs3746142 |
37 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9028956 rs3746142 |
37 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs757309861 CA303967388 |
38 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757309861 CA9028958 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372928434 CA9028957 |
38 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1391556382 CA402921305 |
39 | A>S | No |
ClinGen TOPMed |
|
CA9028960 rs745854452 |
40 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9028959 rs566450902 |
40 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs901576100 CA303967393 |
41 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA402921323 rs901576100 |
41 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1321621039 CA402921328 |
41 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs984404034 CA303967394 |
42 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA402921340 rs1274124719 |
42 | A>V | No |
ClinGen gnomAD |
|
CA402921350 rs1180277346 |
43 | P>L | No |
ClinGen gnomAD |
|
rs780064122 CA9028962 |
43 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780064122 CA402921342 |
43 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs533592758 CA402921365 |
44 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA303967415 rs865967345 |
44 | D>G | No |
ClinGen Ensembl |
|
CA9028964 rs768209693 |
44 | D>N | No |
ClinGen ExAC gnomAD |
|
rs761261637 CA9028966 |
45 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761261637 CA9028967 |
45 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772686733 CA9028968 |
47 | R>I | No |
ClinGen ExAC |
|
CA402921403 rs1172618028 |
48 | E>* | No |
ClinGen gnomAD |
|
CA9028969 rs760093392 |
49 | P>A | No |
ClinGen ExAC |
|
rs753006514 CA402921431 |
50 | E>* | No |
ClinGen ExAC gnomAD |
|
CA9028971 rs753006514 |
50 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1351494358 CA402921449 |
51 | S>I | No |
ClinGen gnomAD |
|
CA402921452 rs1405658944 |
52 | A>S | No |
ClinGen gnomAD |
|
rs1340380238 CA402921456 |
52 | A>V | No |
ClinGen TOPMed |
|
rs201419429 CA9028974 |
53 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9028973 rs764241109 |
53 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402921468 rs1271203326 |
54 | M>I | No |
ClinGen gnomAD |
|
CA9028975 rs757518273 |
54 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395992590 CA402921473 |
55 | Q>R | No |
ClinGen TOPMed |
|
CA303967479 rs1036213275 |
56 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs781483243 CA9028976 |
56 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402921482 rs1490645828 |
57 | A>S | No |
ClinGen gnomAD |
|
rs1222642121 CA402921490 |
58 | Q>R | No |
ClinGen gnomAD |
|
CA9028979 rs780084740 |
61 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9028980 rs749060364 |
62 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565542220 CA402921527 |
64 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565542220 CA303967503 |
64 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565542220 CA9028981 |
64 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel rs1423226940 CA402921535 |
65 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
rs778542537 CA9028982 |
65 | M>K | No |
ClinGen ExAC gnomAD |
|
CA303967511 rs865909266 |
66 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs865909266 CA303967513 |
66 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA9028983 rs747883380 |
66 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9028985 rs772774665 |
67 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1401846810 CA402921542 |
67 | A>V | No |
ClinGen gnomAD |
|
rs760109900 CA9028986 |
68 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA303967518 rs1026903484 |
68 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA9028987 rs770296331 |
70 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs985649822 CA303967522 |
71 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1290486699 CA402921564 |
72 | L>M | No |
ClinGen gnomAD |
|
rs774570726 CA9028992 |
73 | G>* | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 73 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9028991 rs774570726 |
73 | G>R | No |
ClinGen ExAC gnomAD |
|
rs767784999 CA9028993 |
74 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs756215696 CA9028995 |
75 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756215696 CA9028996 |
75 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9028994 rs750546639 |
75 | P>T | No |
ClinGen ExAC gnomAD |
|
rs923050266 CA303967557 |
76 | A>T | No |
ClinGen TOPMed |
|
CA402921586 rs1244732487 |
76 | A>V | No |
ClinGen gnomAD |
|
rs1445231636 CA402921591 |
77 | S>N | No |
ClinGen gnomAD |
|
CA402921606 rs1383238230 |
78 | P>H | No |
ClinGen gnomAD |
|
CA9029001 rs116393241 |
79 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1384577937 CA402921615 |
79 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs116393241 CA402921612 |
79 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000965412 CA9029000 rs116393241 |
79 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA402921628 rs1383988513 |
80 | G>D | No |
ClinGen gnomAD |
|
CA9029002 rs777347924 |
80 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1383988513 CA402921626 |
80 | G>V | No |
ClinGen gnomAD |
|
CA402921639 rs1452292676 |
81 | S>F | No |
ClinGen gnomAD |
|
CA402921633 rs1251214921 |
81 | S>T | No |
ClinGen TOPMed |
|
CA402921649 rs1240607634 |
82 | E>G | No |
ClinGen gnomAD |
|
CA402921641 rs1356411784 |
82 | E>K | No |
ClinGen gnomAD |
|
CA9029004 rs770384410 |
83 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1260776110 CA402921659 |
83 | D>N | No |
ClinGen gnomAD |
|
CA9029006 rs749846450 |
84 | G>E | No |
ClinGen ExAC |
|
CA9029005 rs528482891 |
84 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1265689894 CA402921682 |
85 | P>L | No |
ClinGen TOPMed |
|
CA9029008 rs769043677 |
85 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029009 rs774786700 |
86 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029010 rs762212890 |
86 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774786700 CA402921686 |
86 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402921699 rs1182685148 |
87 | G>D | No |
ClinGen gnomAD |
|
rs1420775177 CA402921694 |
87 | G>R | No |
ClinGen gnomAD |
|
CA303967635 rs370403414 |
88 | S>L | No |
ClinGen ExAC TOPMed |
|
CA9029011 rs370403414 |
88 | S>W | No |
ClinGen ExAC TOPMed |
|
CA402921723 rs1451989551 |
90 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1407038830 CA402921743 |
91 | E>G | No |
ClinGen gnomAD |
|
rs1376223527 CA402921771 |
93 | A>E | No |
ClinGen TOPMed gnomAD |
|
COSM3357229 rs375623283 CA9029014 |
93 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
CA402921774 rs1376223527 |
93 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA402921789 rs755008780 |
95 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765015703 CA9029018 |
95 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA9029017 rs755008780 |
95 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1411298200 CA402921806 |
96 | E>D | No |
ClinGen TOPMed |
|
rs752500578 CA402921796 |
96 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752500578 CA9029019 |
96 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375496194 CA9029021 |
99 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375496194 CA402921837 |
99 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA402921831 rs1202844303 |
99 | P>S | No |
ClinGen gnomAD |
|
rs1196301677 CA402921841 |
100 | G>R | No |
ClinGen gnomAD |
|
rs925892527 CA303967682 |
102 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA9029023 rs756833434 |
103 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756833434 CA402921872 |
103 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs934605415 CA303967693 |
104 | R>Q | No |
ClinGen gnomAD |
|
CA402921891 rs1480218334 |
105 | G>D | No |
ClinGen gnomAD |
|
rs200325004 CA9029025 |
106 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1462752427 CA402921901 |
106 | R>I | No |
ClinGen gnomAD |
|
rs1394905517 CA402921937 |
109 | P>R | No |
ClinGen gnomAD |
|
rs1407488749 CA402921949 |
110 | G>V | No |
ClinGen gnomAD |
|
rs1284612476 CA402921966 |
112 | E>A | No |
ClinGen gnomAD |
|
CA402921970 rs1345807601 |
112 | E>D | No |
ClinGen gnomAD |
|
CA402921974 rs1222509748 |
113 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs1299010844 CA402922013 |
116 | D>N | No |
ClinGen gnomAD |
|
CA402922034 rs1227822470 |
117 | M>T | No |
ClinGen gnomAD |
|
CA402922029 rs1232118450 |
117 | M>V | No |
ClinGen TOPMed |
|
TCGA novel | 118 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 119 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA402922060 rs187709308 |
120 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029027 rs187709308 |
120 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029029 rs772606131 |
121 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs201922730 CA402922098 |
123 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029031 rs371181848 |
123 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201922730 CA9029030 |
123 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1381897611 CA402923154 |
126 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs776667346 CA9029051 |
127 | W>* | No |
ClinGen ExAC |
|
TCGA novel | 129 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs775520957 CA9029054 |
130 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199594401 CA9029053 |
130 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA402923280 rs1462947351 |
132 | M>V | No |
ClinGen gnomAD |
|
rs750083906 CA9029061 |
137 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029058 rs546907163 |
137 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029060 rs750083906 |
137 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029059 rs546907163 |
137 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1408886070 CA402923371 |
138 | E>D | No |
ClinGen TOPMed |
|
rs779769476 CA9029066 |
139 | D>E | No |
ClinGen ExAC |
|
rs1179167918 CA402923372 |
139 | D>N | No |
ClinGen TOPMed |
|
CA303970408 rs1054875210 |
140 | E>K | No |
ClinGen Ensembl |
|
TCGA novel | 141 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1157927357 CA402923499 |
145 | E>K | No |
ClinGen gnomAD |
|
rs747420465 CA9029071 |
147 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA9029070 rs778366147 |
147 | Y>D | No |
ClinGen ExAC gnomAD |
|
CA9029075 rs71335278 |
148 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs71335278 CA303970439 |
148 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029079 rs1347225312 |
149 | D>E | No |
ClinGen TOPMed |
|
CA402923585 rs1281415177 |
149 | D>N | No |
ClinGen gnomAD |
|
CA9029083 rs201472856 |
150 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA402923607 rs1568355559 |
150 | E>K | No |
ClinGen Ensembl |
|
rs775610546 CA9029084 |
151 | E>V | No |
ClinGen ExAC gnomAD |
|
rs1325884054 CA402923662 |
152 | E>D | No |
ClinGen gnomAD |
|
CA9029085 rs141023843 |
152 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029086 rs141023843 |
152 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA402923687 rs1204761231 |
154 | E>K | No |
ClinGen gnomAD |
|
CA9029088 CA402923727 rs565227251 |
155 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA402923712 rs1568355573 |
155 | D>N | No |
ClinGen Ensembl |
|
CA402923738 rs1568355580 |
156 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1441257850 CA402923775 |
157 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA402923785 rs1599383282 |
158 | G>A | No |
ClinGen Ensembl |
|
CA9029089 rs767267079 |
158 | G>W | No |
ClinGen ExAC gnomAD |
|
CA402923828 rs1486447970 |
160 | G>D | No |
ClinGen TOPMed |
|
rs1019560008 CA303970532 |
161 | P>T | No |
ClinGen Ensembl |
|
CA402923857 rs1409362708 |
162 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs754487740 CA9029094 |
165 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753412215 CA9029093 |
165 | A>P | No |
ClinGen ExAC gnomAD |
|
CA402923902 rs754487740 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA303970553 rs1044805119 |
170 | T>A | No |
ClinGen TOPMed |
|
CA303970557 rs773573379 |
170 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs61735587 CA9029097 |
171 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA402924024 rs1224344789 |
173 | F>L | No |
ClinGen gnomAD |
|
rs570019877 CA9029099 |
174 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs570019877 CA402924028 |
174 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA402924044 rs1343326860 |
175 | R>* | No |
ClinGen gnomAD |
|
TCGA novel | 175 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA402924045 rs1216637592 |
175 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs537575733 CA303970567 |
176 | K>E | No |
ClinGen 1000Genomes |
|
rs990078382 CA402924064 |
176 | K>N | No |
ClinGen TOPMed |
|
CA402924108 rs1267782468 |
179 | P>L | No |
ClinGen TOPMed |
|
rs995146387 CA303970593 |
181 | Q>P | No |
ClinGen TOPMed |
|
CA9029101 rs756346008 |
182 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029103 rs749403652 |
184 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029104 rs201690655 |
184 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA402924170 rs749403652 |
184 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs911982273 CA303970630 |
185 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA9029106 rs534929571 |
186 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs534929571 CA303970635 |
186 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029107 rs772042824 |
187 | G>D | No |
ClinGen ExAC gnomAD |
|
CA303970649 rs927823241 |
188 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1302798263 CA402924212 |
190 | R>G | No |
ClinGen gnomAD |
|
CA402924225 rs1483911661 |
190 | R>S | No |
ClinGen gnomAD |
|
rs1175029513 CA402924234 |
191 | V>A | No |
ClinGen gnomAD |
|
CA303970666 rs939166353 |
191 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA402924227 rs939166353 |
191 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1226601752 CA402924259 |
194 | G>D | No |
ClinGen TOPMed |
|
CA402924280 rs1381950584 |
196 | E>K | No |
ClinGen TOPMed |
|
CA402924298 rs373775705 |
197 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029108 rs373775705 |
197 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs894864274 CA303970676 |
197 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs760487324 CA9029109 |
198 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1360994837 CA402924304 |
198 | P>S | No |
ClinGen gnomAD |
|
rs886087583 CA303970712 |
199 | G>V | No |
ClinGen TOPMed |
|
CA9029110 rs766151255 |
200 | P>L | No |
ClinGen ExAC gnomAD |
|
rs766151255 CA402924335 |
200 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1433004905 CA402924340 |
201 | G>R | No |
ClinGen gnomAD |
|
rs35228814 CA303970718 |
202 | P>S | No |
ClinGen gnomAD |
|
CA402924375 rs1448864737 |
204 | H>D | No |
ClinGen TOPMed gnomAD |
|
CA402924381 rs1599383596 |
204 | H>P | No |
ClinGen Ensembl |
|
CA402924377 rs1448864737 |
204 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs776380486 CA9029111 |
206 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402924409 rs1388905828 |
207 | G>R | No |
ClinGen gnomAD |
|
CA402924435 rs1319468213 |
209 | A>T | No |
ClinGen gnomAD |
|
CA402924460 rs577924521 |
211 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA303970764 rs577924521 |
211 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs111301205 CA402924476 |
212 | A>D | No |
ClinGen gnomAD |
|
rs111301205 CA303970768 |
212 | A>V | No |
ClinGen gnomAD |
|
CA303970774 rs538210190 |
213 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
CA402924491 rs1353894208 |
214 | Q>* | No |
ClinGen gnomAD |
|
CA402924494 rs1206526401 |
214 | Q>P | No |
ClinGen gnomAD |
|
CA402924502 rs1284444131 |
215 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs367623103 CA9029114 |
217 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA303970791 rs763395935 |
217 | P>S | No |
ClinGen Ensembl |
|
rs757767143 CA9029116 |
221 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402924573 rs1445144445 |
221 | G>S | No |
ClinGen gnomAD |
|
rs1036013642 CA303970800 |
222 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA402924585 rs1036013642 |
222 | D>Y | No |
ClinGen TOPMed gnomAD |
|
CA303995134 rs777850746 |
232 | L>H | No |
ClinGen Ensembl |
|
CA9029139 rs761152181 |
234 | E>K | No |
ClinGen ExAC gnomAD |
|
CA402927526 rs766789167 |
235 | L>F | No |
ClinGen ExAC gnomAD |
|
rs766789167 CA9029140 |
235 | L>I | No |
ClinGen ExAC gnomAD |
|
rs766789167 CA9029141 |
235 | L>V | No |
ClinGen ExAC gnomAD |
|
rs970653088 CA303995167 |
236 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA402927534 rs779139236 |
236 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029143 rs779139236 COSM1172696 |
236 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9029144 rs752740985 |
237 | G>R | No |
ClinGen ExAC gnomAD |
|
CA402927561 rs1412807882 |
238 | D>G | No |
ClinGen TOPMed |
|
CA402927553 rs1407389507 |
238 | D>H | No |
ClinGen gnomAD |
|
rs769342047 CA9029151 |
246 | D>N | No |
ClinGen ExAC gnomAD |
|
CA402927718 rs1292824667 |
250 | S>R | No |
ClinGen gnomAD |
|
rs972773194 CA303995210 |
253 | Q>E | No |
ClinGen Ensembl |
|
CA402928586 rs1405866299 |
258 | P>R | No |
ClinGen TOPMed |
|
CA303999008 rs868683152 |
261 | R>H | No |
ClinGen Ensembl |
|
CA303999015 rs866993552 |
263 | P>S | No |
ClinGen Ensembl |
|
TCGA novel | 269 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA402928790 rs1346552034 |
274 | M>I | No |
ClinGen gnomAD |
|
rs1235008185 CA402928783 |
274 | M>V | No |
ClinGen TOPMed |
|
rs749030700 CA402928806 |
277 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749030700 CA9029170 |
277 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 278 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1454504887 CA402928827 |
280 | T>M | No |
ClinGen gnomAD |
|
CA9029173 rs747600455 |
286 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs866421579 CA303999070 |
288 | V>G | No |
ClinGen Ensembl |
|
CA402928875 rs1228218964 |
288 | V>I | No |
ClinGen gnomAD |
|
CA402928953 rs1266612874 |
299 | K>E | No |
ClinGen gnomAD |
|
rs1463104251 CA402928963 |
300 | G>D | No |
ClinGen gnomAD |
|
rs1482658281 CA402928994 |
305 | T>M | No |
ClinGen gnomAD |
|
rs759927569 CA9029176 |
306 | S>F | No |
ClinGen ExAC gnomAD |
|
rs17857501 VAR_033204 CA303999657 |
320 | K>E | No |
ClinGen UniProt Ensembl dbSNP |
|
CA402929134 rs1323062149 |
324 | P>L | No |
ClinGen gnomAD |
|
rs1433264132 CA402929155 |
327 | C>Y | No |
ClinGen gnomAD |
|
CA303999688 rs774570359 |
330 | R>Q | No |
ClinGen TOPMed gnomAD |
|
COSM1004329 rs145361495 CA9029215 |
330 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA402929185 rs1227095806 |
331 | G>S | No |
ClinGen gnomAD |
|
rs934402938 CA303999693 |
332 | L>F | No |
ClinGen Ensembl |
|
CA9029217 rs368350530 |
336 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368350530 CA9029216 |
336 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1183749059 CA402929249 |
337 | E>Q | No |
ClinGen gnomAD |
|
rs1449679620 CA402929310 |
342 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA9029220 rs766373330 |
344 | S>G | No |
ClinGen ExAC gnomAD |
|
CA9029222 rs759445593 |
350 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs752484238 CA9029224 |
351 | R>C | No |
ClinGen ExAC gnomAD |
|
CA9029225 rs758046272 |
351 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1162910979 CA402929450 |
353 | S>R | No |
ClinGen gnomAD |
|
CA9029226 rs777228150 |
354 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029227 rs751100042 |
359 | F>L | No |
ClinGen ExAC gnomAD |
|
rs756678274 CA9029228 |
361 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA9029230 rs372075149 |
362 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1341760308 CA402929557 |
363 | P>T | No |
ClinGen gnomAD |
|
CA402929575 rs1283271334 |
364 | G>D | No |
ClinGen gnomAD |
|
rs779427974 CA9029232 |
364 | G>R | No |
ClinGen ExAC gnomAD |
|
rs773267886 CA9029235 |
365 | G>E | No |
ClinGen ExAC gnomAD |
|
COSM1398251 CA9029234 rs538606329 |
365 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1206752922 CA402929602 |
367 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs868103098 CA303999897 |
368 | G>D | No |
ClinGen Ensembl |
|
rs143163296 CA9029238 |
368 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
rs143163296 CA402929613 |
368 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
rs1046566620 CA303999898 |
372 | S>L | No |
ClinGen TOPMed |
|
CA303999900 rs891123182 |
373 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA9029241 rs752498725 |
377 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375909439 CA402929773 |
381 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029242 rs375909439 |
381 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029244 rs751208667 |
382 | L>P | No |
ClinGen ExAC gnomAD |
|
rs763836736 CA9029243 |
382 | L>V | No |
ClinGen ExAC gnomAD |
|
CA402929791 rs1262697969 |
383 | A>G | No |
ClinGen TOPMed |
|
CA402929786 rs1333117894 |
383 | A>S | No |
ClinGen gnomAD |
|
rs749890340 CA9029247 |
384 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1288498751 CA402929816 |
385 | S>I | No |
ClinGen gnomAD |
|
CA9029248 rs575203453 |
386 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA402929841 rs12608658 CA402929842 |
387 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 387 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779513674 CA9029249 |
387 | N>S | No |
ClinGen ExAC gnomAD |
|
CA9029251 rs758731649 |
388 | G>S | No |
ClinGen ExAC gnomAD |
|
rs778179350 CA9029252 |
389 | S>I | No |
ClinGen ExAC gnomAD |
|
CA402929863 rs1599424557 |
389 | S>R | No |
ClinGen Ensembl |
|
rs747251396 CA9029253 |
390 | S>C | No |
ClinGen ExAC gnomAD |
|
rs747251396 CA402929873 |
390 | S>F | No |
ClinGen ExAC gnomAD |
|
CA9029254 rs771180105 |
391 | I>V | No |
ClinGen ExAC gnomAD |
|
rs745885970 CA9029256 |
392 | T>N | No |
ClinGen ExAC gnomAD |
|
CA9029255 rs776697309 |
392 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1436581385 CA402929900 |
393 | P>S | No |
ClinGen TOPMed |
|
rs147399288 CA402929908 |
394 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs147399288 COSM1004330 CA9029258 |
394 | A>T | endometrium skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA9029259 rs762844219 |
394 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1373230182 CA402929921 |
395 | P>H | No |
ClinGen gnomAD |
|
CA402929919 rs1171560627 |
395 | P>S | No |
ClinGen gnomAD |
|
rs763856062 CA9029260 |
397 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1414835402 CA402929968 |
398 | K>R | No |
ClinGen TOPMed |
|
CA304000912 rs975933739 |
400 | E>V | No |
ClinGen TOPMed |
|
rs1391347278 CA402930818 |
402 | D>V | No |
ClinGen gnomAD |
|
CA9029273 rs145850291 |
404 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9029275 rs375227599 |
406 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA402930840 rs375227599 |
406 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1340053626 CA402930849 |
407 | I>T | No |
ClinGen gnomAD |
|
rs1297155248 CA402930845 |
407 | I>V | No |
ClinGen gnomAD |
|
CA9029277 rs768575143 |
408 | T>P | No |
ClinGen ExAC gnomAD |
|
CA9029279 rs761624925 |
409 | V>A | No |
ClinGen ExAC gnomAD |
|
rs774034068 CA9029278 |
409 | V>I | No |
ClinGen ExAC gnomAD |
|
rs767107570 CA9029280 |
411 | G>D | No |
ClinGen ExAC gnomAD |
|
CA402930868 rs1450497130 |
411 | G>R | No |
ClinGen gnomAD |
|
rs143073569 CA9029281 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs368267576 CA9029282 |
412 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9029284 rs753391986 |
414 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1457306707 CA402930886 |
415 | V>M | No |
ClinGen gnomAD |
|
rs1045674988 CA304001030 |
417 | L>R | No |
ClinGen TOPMed gnomAD |
|
rs751888436 CA9029287 |
418 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402930924 rs1354051547 |
421 | P>L | No |
ClinGen TOPMed |
|
rs1313484710 CA402930931 |
422 | V>G | No |
ClinGen gnomAD |
|
CA402930933 rs1231936611 |
423 | V>M | No |
ClinGen gnomAD |
|
CA402930950 rs1599426737 |
425 | A>G | No |
ClinGen Ensembl |
|
CA402930954 rs1599426741 |
426 | Q>P | No |
ClinGen Ensembl |
|
CA9029290 rs750690353 |
428 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs937201928 CA304001109 |
429 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA402930976 rs1208481657 |
430 | V>L | No |
ClinGen gnomAD |
|
rs1484670654 CA402930982 |
431 | Q>E | No |
ClinGen gnomAD |
|
rs756327494 CA9029291 |
432 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1331176469 CA402930998 |
433 | A>G | No |
ClinGen TOPMed |
|
CA402931008 rs1422739050 |
435 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1162617457 CA402931011 |
435 | A>V | No |
ClinGen gnomAD |
|
rs999477648 CA304001119 |
436 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs1457754865 CA402931030 |
438 | A>V | No |
ClinGen gnomAD |
|
rs1343252018 CA402931034 |
439 | V>A | No |
ClinGen gnomAD |
|
CA9029293 rs749335471 COSM1189739 |
439 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA402931043 rs995627264 |
441 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA304001138 rs995627264 |
441 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA9029295 rs778870269 |
443 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402931059 rs1290357880 |
443 | A>V | No |
ClinGen gnomAD |
|
rs1282545796 CA402931089 |
448 | Q>R | No |
ClinGen gnomAD |
|
rs886770931 CA304001148 |
449 | L>V | No |
ClinGen Ensembl |
|
CA9029299 rs371676089 |
450 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773129754 CA9029298 |
450 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402931100 rs1185137227 |
451 | E>K | No |
ClinGen gnomAD |
|
rs1181396793 CA402931131 |
455 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA9029303 rs548635209 |
459 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs548635209 CA402931159 |
459 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029308 rs756345868 |
466 | V>A | No |
ClinGen ExAC gnomAD |
|
CA9029307 rs750722798 |
466 | V>L | No |
ClinGen ExAC gnomAD |
|
rs772160745 CA9029309 |
467 | A>T | No |
ClinGen ExAC |
|
rs1220171155 CA402931218 |
468 | D>E | No |
ClinGen gnomAD |
|
CA9029311 rs369884232 |
468 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1278425843 CA402931220 |
469 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1346671874 CA402931236 |
471 | Q>K | No |
ClinGen gnomAD |
|
CA9029312 rs144256341 |
471 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029314 rs772133293 |
472 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140181068 CA9029313 |
472 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029315 CA402931266 rs777713031 |
475 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029316 rs746742501 COSM1183574 |
476 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA9029317 rs559697185 |
476 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029318 rs776302212 |
478 | L>F | No |
ClinGen ExAC gnomAD |
|
CA402931286 rs1376966400 |
479 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA9029319 rs759076550 |
480 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA402931293 rs1469683411 |
480 | Q>R | No |
ClinGen TOPMed |
|
rs769392624 CA9029320 |
482 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1429188198 CA402931313 |
483 | L>V | No |
ClinGen gnomAD |
|
rs1049199971 CA304001261 |
485 | M>L | No |
ClinGen TOPMed |
|
CA304001268 rs949347853 |
486 | A>V | No |
ClinGen Ensembl |
|
CA9029323 rs534931697 |
488 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402931345 rs1599427176 |
488 | Q>P | No |
ClinGen Ensembl |
|
CA9029324 rs773591927 |
491 | M>I | No |
ClinGen ExAC gnomAD |
|
rs140675218 CA9029326 |
494 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9029325 rs760991193 |
494 | R>W | No |
ClinGen ExAC gnomAD |
|
CA402931393 rs1194726175 |
496 | N>H | No |
ClinGen gnomAD |
|
TCGA novel | 499 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA402931418 rs1304492542 |
499 | A>P | No |
ClinGen TOPMed |
|
rs1212737500 CA402931706 |
501 | E>A | No |
ClinGen TOPMed |
|
CA9029360 rs537786817 |
501 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029361 rs781106095 |
503 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs143256319 CA9029362 |
503 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs755814713 CA9029363 |
504 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA9029364 rs779533318 |
505 | D>N | No |
ClinGen ExAC gnomAD |
|
CA402931800 rs1183562614 |
509 | N>H | No |
ClinGen gnomAD |
|
rs1599429212 CA402931807 |
509 | N>T | No |
ClinGen Ensembl |
|
rs142537557 CA9029366 |
511 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA304002932 rs1025651534 |
515 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA402931877 rs1174748444 |
515 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA402931913 rs1022065150 |
517 | N>K | No |
ClinGen gnomAD |
|
rs1434997315 CA402931943 |
520 | S>G | No |
ClinGen gnomAD |
|
rs1353051807 CA402931956 |
521 | M>L | No |
ClinGen gnomAD |
|
rs1353051807 CA402931955 |
521 | M>V | No |
ClinGen gnomAD |
|
CA9029370 rs747585677 |
522 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 523 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1599429281 CA402931992 |
523 | V>G | No |
ClinGen Ensembl |
|
rs1276448472 CA402932029 |
526 | N>S | No |
ClinGen gnomAD |
|
rs770082664 CA9029374 |
527 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA402932065 rs1319113851 |
529 | M>R | No |
ClinGen TOPMed gnomAD |
|
CA402932064 rs1319113851 |
529 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA9029376 rs763245378 |
529 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA304005446 rs879114353 |
533 | V>I | No |
ClinGen Ensembl |
|
rs1294890712 CA402932124 |
536 | A>G | No |
ClinGen gnomAD |
|
rs1383026538 CA402932120 |
536 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1308784506 CA402932129 |
537 | Q>L | No |
ClinGen TOPMed |
|
CA9029402 rs547744138 |
538 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029405 rs145475596 |
539 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9029404 rs145475596 |
539 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA402932141 rs1266544789 |
539 | P>S | No |
ClinGen gnomAD |
|
CA9029407 rs757883431 |
540 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029408 rs201677585 |
542 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs780569363 CA9029411 |
543 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1418467220 CA402932176 |
546 | A>T | No |
ClinGen gnomAD |
|
CA402932183 rs1460900570 |
547 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1021870103 CA304005481 |
551 | G>C | No |
ClinGen TOPMed |
|
rs769033902 CA304005508 |
552 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769033902 CA9029420 |
552 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029422 rs748380647 |
553 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772101781 CA9029423 |
553 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1270360847 CA402932227 |
554 | G>D | No |
ClinGen gnomAD |
|
CA9029425 rs200079740 |
554 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1259778621 CA402932230 |
555 | G>D | No |
ClinGen gnomAD |
|
CA9029427 rs572708769 |
555 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1484721214 CA402932235 |
556 | G>D | No |
ClinGen gnomAD |
|
rs1051505 VAR_033205 CA9029430 |
556 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
COSM1004340 CA9029435 rs752338179 |
557 | S>G | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA402932240 rs1257650853 |
557 | S>N | No |
ClinGen gnomAD |
|
CA9029436 rs758051704 |
558 | S>G | No |
ClinGen ExAC gnomAD |
|
rs763578244 CA9029437 |
559 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751013219 CA9029439 |
560 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9029440 rs576049092 |
561 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1158182095 CA402932270 |
561 | A>V | No |
ClinGen gnomAD |
|
CA9029441 rs749782323 |
562 | G>S | No |
ClinGen ExAC gnomAD |
|
rs779323045 CA9029443 COSM178096 |
563 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1286285525 CA402932280 |
563 | G>V | No |
ClinGen gnomAD |
|
rs143689585 CA9029445 |
564 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143689585 CA402932282 |
564 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9029446 rs143689585 |
564 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374272985 CA9029444 |
564 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs770883132 CA9029448 |
565 | G>E | No |
ClinGen ExAC gnomAD |
|
CA9029447 rs747064662 |
565 | G>R | No |
ClinGen ExAC gnomAD |
|
rs770883132 CA402932285 |
565 | G>V | No |
ClinGen ExAC gnomAD |
|
rs776587212 CA9029449 |
566 | G>R | No |
ClinGen ExAC gnomAD |
|
CA9029450 rs535008862 |
568 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs561845616 CA9029452 |
569 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9029453 rs529074862 |
570 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1208554450 CA402932313 |
570 | T>N | No |
ClinGen gnomAD |
|
rs1253873193 CA402932316 |
571 | S>G | No |
ClinGen gnomAD |
|
rs148111495 CA9029455 |
571 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA402932326 rs1405564900 |
572 | G>D | No |
ClinGen gnomAD |
|
CA9029456 rs371664837 |
572 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1394487799 CA402932329 |
573 | G>D | No |
ClinGen gnomAD |
|
CA9029458 rs754455044 |
573 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1599433311 CA402932336 |
574 | Q>R | No |
ClinGen Ensembl |
|
rs755538493 CA9029459 |
575 | A>G | No |
ClinGen ExAC gnomAD |
|
rs141917785 CA9029460 |
576 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368720844 CA9029461 |
577 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA402932352 rs1309997687 |
577 | P>S | No |
ClinGen gnomAD |
|
CA402932356 rs1254377590 |
578 | A>P | No |
ClinGen TOPMed |
|
CA9029462 rs150609955 |
578 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs781231612 CA9029466 |
582 | T>I | No |
ClinGen ExAC gnomAD |
|
rs745869302 CA9029467 |
583 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1230906725 CA402932390 |
584 | S>C | No |
ClinGen gnomAD |
|
CA9029469 rs775161413 |
584 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1206458145 CA402932396 |
585 | T>I | No |
ClinGen TOPMed |
|
CA402932404 rs1599433393 |
587 | T>P | No |
ClinGen Ensembl |
|
CA9029470 rs762759062 |
588 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
rs768306091 CA9029471 |
590 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA304005625 rs767204634 |
591 | S>* | No |
ClinGen ExAC gnomAD |
|
rs767204634 CA9029474 |
591 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA9029473 rs761544461 |
591 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760137708 CA402932452 |
592 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765729766 CA9029477 |
593 | P>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q99856
No regional properties for Q99856
Type | Name | Position | InterPro Accession |
---|---|---|---|
No domain, repeats, and functional sites for Q99856 |
4 GO annotations of cellular component
Name | Definition |
---|---|
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
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. |
4 GO annotations of molecular function
Name | Definition |
---|---|
chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
identical protein binding | Binding to an identical protein or proteins. |
transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
2 GO annotations of biological process
Name | Definition |
---|---|
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
5 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q8BM75 | Arid5b | AT-rich interactive domain-containing protein 5B | Mus musculus (Mouse) | PR |
Q62431 | Arid3a | AT-rich interactive domain-containing protein 3A | Mus musculus (Mouse) | PR |
O02326 | cfi-1 | AT-rich interactive domain-containing protein cfi-1 | Caenorhabditis elegans | PR |
C0SUW7 | ARID6 | AT-rich interactive domain-containing protein 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q0WNR6 | ARID5 | AT-rich interactive domain-containing protein 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MKLQAVMETL | LQRQQRARQE | LEARQQLPPD | PPAAPPGRAR | AAPDEDREPE | SARMQRAQMA |
70 | 80 | 90 | 100 | 110 | 120 |
ALAAMRAAAA | GLGHPASPGG | SEDGPPGSEE | EDAAREGTPG | SPGRGREGPG | EEHFEDMASD |
130 | 140 | 150 | 160 | 170 | 180 |
EDMKPKWEEE | EMEEDLGEDE | EEEEEDYEDE | EEEEDEEGLG | PPGPASLGTT | ALFPRKAQPP |
190 | 200 | 210 | 220 | 230 | 240 |
QAFRGDGVPR | VLGGQERPGP | GPAHPGGAAH | VAPQLQPPDH | GDWTYEEQFK | QLYELDGDPK |
250 | 260 | 270 | 280 | 290 | 300 |
RKEFLDDLFS | FMQKRGTPVN | RIPIMAKQVL | DLFMLYVLVT | EKGGLVEVIN | KKLWREITKG |
310 | 320 | 330 | 340 | 350 | 360 |
LNLPTSITSA | AFTLRTQYMK | YLYPYECEKR | GLSNPNELQA | AIDSNRREGR | RQSFGGSLFA |
370 | 380 | 390 | 400 | 410 | 420 |
YSPGGAHGML | SSPKLPVSSL | GLAASTNGSS | ITPAPKIKKE | EDSAIPITVP | GRLPVSLAGH |
430 | 440 | 450 | 460 | 470 | 480 |
PVVAAQAAAV | QAAAAQAAVA | AQAAALEQLR | EKLESAEPPE | KKMALVADEQ | QRLMQRALQQ |
490 | 500 | 510 | 520 | 530 | 540 |
NFLAMAAQLP | MSIRINSQAS | ESRQDSAVNL | TGTNGSNSIS | MSVEINGIMY | TGVLFAQPPA |
550 | 560 | 570 | 580 | 590 | |
PTPTSAPNKG | GGGGGGSSSN | AGGRGGNTGT | SGGQAGPAGL | STPSTSTSNN | SLP |