Q9H2G4
Gene name |
TSPYL2 (CDA1, DENTT, TSPX, HRIHFB2216) |
Protein name |
Testis-specific Y-encoded-like protein 2 |
Names |
TSPY-like protein 2, Cell division autoantigen 1, Cutaneous T-cell lymphoma-associated antigen se20-4, CTCL-associated antigen se20-4, Differentially-expressed nucleolar TGF-beta1 target protein, Nuclear protein of 79 kDa, NP79 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64061 |
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 Q9H2G4
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9H2G4-F1 | Predicted | AlphaFoldDB |
482 variants for Q9H2G4
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs782724184 CA10418503 |
2 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413113208 rs1556807111 |
2 | D>Y | No |
ClinGen gnomAD |
|
rs1556807114 CA413113236 |
3 | R>S | No |
ClinGen gnomAD |
|
CA413113273 rs1556807116 |
4 | P>S | No |
ClinGen gnomAD |
|
rs781914325 CA10418504 |
6 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413113338 rs1556807120 |
6 | E>G | No |
ClinGen gnomAD |
|
rs898527518 CA329168633 |
6 | E>K | No |
ClinGen Ensembl |
|
CA413113355 rs1556807124 |
7 | G>E | No |
ClinGen gnomAD |
|
CA413113393 rs1469158674 |
9 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1469158674 CA413113385 |
9 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA413113498 rs1556807132 |
12 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 14 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413113597 rs1318359585 |
16 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA413113650 rs1284339555 |
17 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs183642206 CA413113652 |
18 | S>A | No |
ClinGen 1000Genomes gnomAD |
|
rs1222766539 CA413113666 |
18 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA329168642 rs183642206 |
18 | S>P | No |
ClinGen 1000Genomes gnomAD |
|
CA413113658 rs183642206 |
18 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
rs1556807146 CA413113689 |
19 | E>G | No |
ClinGen gnomAD |
|
rs1556807145 CA413113672 |
19 | E>K | No |
ClinGen gnomAD |
|
CA413113741 rs1556807147 |
21 | P>A | No |
ClinGen gnomAD |
|
rs1556807148 CA413113772 |
22 | Q>R | No |
ClinGen gnomAD |
|
CA10418507 rs781871680 |
23 | R>L | No |
ClinGen ExAC gnomAD |
|
CA10418508 rs782504396 |
25 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1305586848 CA413113842 |
26 | P>S | No |
ClinGen TOPMed |
|
CA413114990 rs1252690968 |
28 | P>A | No |
ClinGen TOPMed |
|
CA413114995 rs1192226103 |
28 | P>R | No |
ClinGen TOPMed |
|
rs1002926853 CA329168690 |
30 | P>L | No |
ClinGen gnomAD |
|
CA413115029 rs1556807174 |
31 | P>L | No |
ClinGen gnomAD |
|
rs781884842 RCV000999438 |
32 | P>missing | No |
ClinVar dbSNP |
|
rs781884842 RCV000239202 |
33 | P>missing | No |
ClinVar dbSNP |
|
CA413115050 rs1556807180 |
33 | P>L | No |
ClinGen gnomAD |
|
CA413115076 rs1556807186 |
36 | R>* | No |
ClinGen gnomAD |
|
rs1444736813 CA413115103 |
38 | P>L | No |
ClinGen TOPMed |
|
rs1556807194 CA413115120 |
40 | P>L | No |
ClinGen gnomAD |
|
rs1556807193 CA413115118 |
40 | P>S | No |
ClinGen gnomAD |
|
CA413115128 rs1234857280 |
41 | P>A | No |
ClinGen TOPMed |
|
rs1300971313 CA413115154 |
43 | Q>R | No |
ClinGen TOPMed |
|
rs782451065 CA10418517 |
44 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413115266 rs1602101717 |
51 | E>K | No |
ClinGen Ensembl |
|
TCGA novel | 54 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413115361 rs1602101724 |
56 | Q>E | No |
ClinGen Ensembl |
|
TCGA novel | 56 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413115371 rs1556807211 |
56 | Q>R | No |
ClinGen gnomAD |
|
CA10418520 rs782544701 |
60 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782223791 CA10418522 |
62 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1569227244 CA413115493 |
63 | G>R | No |
ClinGen Ensembl |
|
CA413115532 rs1556807234 |
65 | G>E | No |
ClinGen gnomAD |
|
rs1358640232 CA413115556 |
67 | G>R | No |
ClinGen TOPMed |
|
rs1358640232 CA413115554 |
67 | G>S | No |
ClinGen TOPMed |
|
rs1314844230 CA413115572 |
68 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs782412723 CA10418526 |
70 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413115656 rs1556807246 |
72 | P>L | No |
ClinGen gnomAD |
|
rs782760564 CA10418529 |
72 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 74 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs781973800 CA10418530 |
75 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413115722 rs1556807258 |
76 | Y>C | No |
ClinGen gnomAD |
|
CA10418532 rs782716321 |
82 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782716321 CA413115847 |
82 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781793525 CA10418533 |
84 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1556807263 | 84 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs868974991 CA413115920 |
86 | A>S | No |
ClinGen gnomAD |
|
CA413115914 rs868974991 |
86 | A>T | No |
ClinGen gnomAD |
|
rs1556807271 CA413115926 |
86 | A>V | No |
ClinGen gnomAD |
|
rs1556807276 CA413115932 |
87 | Y>H | No |
ClinGen gnomAD |
|
CA10418535 rs782790882 |
89 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413115992 rs1258920633 |
90 | L>F | No |
ClinGen TOPMed |
|
rs200235910 CA10418537 |
91 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs868944420 CA413116031 |
92 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1206581888 CA413116049 |
93 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA413116041 rs1278158064 |
93 | E>Q | No |
ClinGen TOPMed |
|
rs782596856 CA10418539 |
94 | C>G | No |
ClinGen ExAC gnomAD |
|
rs782596856 CA10418538 |
94 | C>R | No |
ClinGen ExAC gnomAD |
|
rs782431539 CA10418540 |
95 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418543 rs782391431 |
101 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1214136520 CA413116222 COSM3708664 |
101 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1556807299 CA413116279 |
103 | S>L | No |
ClinGen gnomAD |
|
rs1556807305 CA413116310 |
105 | Y>D | No |
ClinGen gnomAD |
|
rs1295191118 CA413116425 |
109 | P>S | No |
ClinGen TOPMed |
|
rs1375338128 CA413116476 |
111 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1556807317 CA413116539 |
114 | S>G | No |
ClinGen gnomAD |
|
CA413116547 rs1556807320 |
114 | S>N | No |
ClinGen gnomAD |
|
rs1602101968 CA413116658 |
119 | P>S | No |
ClinGen Ensembl |
|
rs781938963 CA10418547 |
120 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1556807329 CA413116679 |
120 | T>P | No |
ClinGen gnomAD |
|
CA10418549 rs782426401 |
121 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782053997 CA10418548 |
121 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 122 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782022963 CA10418550 |
122 | E>G | No |
ClinGen ExAC gnomAD |
|
CA413116816 rs1188010467 |
124 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA10418557 rs201527496 |
125 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413116842 rs200823725 CA10418555 |
125 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10418556 rs201527496 |
125 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200823725 CA413116839 |
125 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs782157673 | 127 | S>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs782639859 CA10418559 |
127 | S>I | No |
ClinGen ExAC gnomAD |
|
rs1250546800 CA413116969 |
130 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs782478654 CA10418562 |
131 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418563 rs782649574 |
133 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs782201620 CA10418564 |
134 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413117047 rs782201620 |
134 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782314641 CA10418565 |
136 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs188041795 CA10418566 |
137 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10418568 rs782399753 |
138 | S>G | No |
ClinGen ExAC gnomAD |
|
CA10418569 rs782793681 |
138 | S>R | No |
ClinGen ExAC gnomAD |
|
CA10418570 rs782105353 |
139 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782314089 CA10418571 |
140 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1556807368 CA413117202 |
141 | G>D | No |
ClinGen gnomAD |
|
rs1310674266 CA413117251 |
143 | E>G | No |
ClinGen TOPMed |
|
CA10418573 rs782161959 |
148 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413117433 rs782792077 |
149 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782792077 CA10418574 |
149 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1556807383 CA413117458 |
150 | S>N | No |
ClinGen gnomAD |
|
TCGA novel | 151 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782759070 CA10418577 |
155 | A>S | No |
ClinGen ExAC |
|
rs781820784 CA10418578 |
155 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418579 rs144264921 |
156 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA413117705 rs1249791967 |
158 | R>K | No |
ClinGen TOPMed |
|
rs1469615945 CA413117781 |
160 | V>A | No |
ClinGen TOPMed |
|
CA413117766 rs1602102149 |
160 | V>I | No |
ClinGen Ensembl |
|
rs782541253 CA10418582 |
161 | D>G | No |
ClinGen ExAC gnomAD |
|
rs782653951 CA10418583 |
162 | P>L | No |
ClinGen ExAC gnomAD |
|
CA329168991 rs147809315 |
162 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
CA413117882 rs1556807412 |
164 | S>R | No |
ClinGen gnomAD |
|
TCGA novel | 167 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782486858 CA10418585 |
169 | I>F | No |
ClinGen ExAC gnomAD |
|
CA413118055 rs1263752143 |
171 | I>V | No |
ClinGen TOPMed |
|
TCGA novel | 173 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782013886 CA10418591 |
174 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782314519 CA10418592 |
177 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1327004488 CA413118251 |
180 | R>P | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 184 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413118340 rs1556807436 |
184 | R>K | No |
ClinGen gnomAD |
|
rs781855034 CA10418593 |
185 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413118380 rs1388205721 |
187 | R>W | No |
ClinGen TOPMed |
|
rs368493284 CA413118428 |
189 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs781920742 CA10418601 |
190 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782707868 CA10418600 |
190 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1013022953 CA329169056 |
192 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA10418604 rs781875909 |
193 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs192279149 CA413118482 |
193 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
RCV000999439 rs1602102251 |
195 | R>missing | No |
ClinVar dbSNP |
|
TCGA novel | 199 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782374761 CA329169090 |
200 | V>G | No |
ClinGen 1000Genomes |
|
rs782668342 CA10418610 |
200 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1238530279 CA413118660 |
202 | R>M | No |
ClinGen TOPMed gnomAD |
|
CA413118675 rs1304609582 |
203 | E>K | No |
ClinGen TOPMed |
|
rs782632847 CA10418613 |
204 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 206 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782342028 CA10418615 |
206 | E>G | No |
ClinGen ExAC gnomAD |
|
rs782228545 CA10418614 |
206 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA329169110 rs963766645 |
210 | E>A | No |
ClinGen Ensembl |
|
COSM1122904 rs782435988 CA10418618 |
210 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1556807486 CA413118833 |
212 | M>L | No |
ClinGen gnomAD |
|
CA413118852 rs1295814650 |
213 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA329169116 rs372826412 |
214 | S>N | No |
ClinGen ESP TOPMed |
|
rs1556807496 CA413118958 |
219 | L>V | No |
ClinGen gnomAD |
|
TCGA novel | 220 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10418620 rs782133426 |
221 | D>A | No |
ClinGen ExAC gnomAD |
|
rs782133426 CA10418621 |
221 | D>V | No |
ClinGen ExAC gnomAD |
|
CA413119142 rs1556807503 |
228 | A>T | No |
ClinGen gnomAD |
|
rs975255965 CA329169145 |
229 | V>A | No |
ClinGen Ensembl |
|
TCGA novel | 231 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs375827801 CA10418622 |
235 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10418623 rs782090845 |
237 | F>L | No |
ClinGen ExAC |
|
CA413119495 rs1429346571 |
239 | R>C | No |
ClinGen TOPMed |
|
rs782138092 CA10418626 |
242 | R>H | No |
ClinGen ExAC |
|
TCGA novel | 248 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413119865 rs1556807513 |
252 | L>V | No |
ClinGen gnomAD |
|
rs782493555 CA10418629 |
254 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782493555 CA413119927 |
254 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 256 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413119997 rs1556807524 |
257 | L>H | No |
ClinGen gnomAD |
|
rs782601558 CA10418630 |
257 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_075536 | 262 | I>M | found in patients with mild intellectual disability; unknown pathological significance [UniProt] | No | UniProt |
CA413120198 rs1275739524 |
264 | G>D | No |
ClinGen TOPMed |
|
CA413120289 rs1375956619 |
267 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1556807840 CA413120732 |
271 | L>F | No |
ClinGen gnomAD |
|
CA413120766 rs1351157319 |
272 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs782321647 CA10418655 |
272 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 275 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1556807853 CA413120958 |
279 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1556807857 CA413121001 |
281 | N>T | No |
ClinGen gnomAD |
|
rs1368644810 CA413121008 |
282 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA10418658 rs782398266 |
282 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
CA413121024 rs1403222151 |
283 | R>C | No |
ClinGen TOPMed |
|
rs781958730 CA10418659 |
283 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413121085 rs1569228093 |
286 | D>Y | No |
ClinGen Ensembl |
|
COSM1230717 rs782227977 CA10418660 |
289 | R>C | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs199763926 CA10418661 |
289 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1556807871 CA413121174 |
292 | T>S | No |
ClinGen gnomAD |
|
CA413123055 rs1305873504 |
297 | Q>H | No |
ClinGen TOPMed |
|
CA10418703 rs782210338 |
300 | R>K | No |
ClinGen ExAC TOPMed |
|
rs1229404836 CA413123193 |
302 | I>T | No |
ClinGen TOPMed |
|
TCGA novel | 309 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 312 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782355371 CA10418704 |
313 | Q>H | No |
ClinGen ExAC |
|
CA10418705 rs782562823 |
314 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1556807962 CA413123584 |
316 | P>H | No |
ClinGen gnomAD |
|
rs1556807962 CA413123585 |
316 | P>R | No |
ClinGen gnomAD |
|
CA413123580 rs1556807960 |
316 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA10418707 rs782394621 |
321 | M>T | No |
ClinGen ExAC gnomAD |
|
CA10418706 rs782191661 |
321 | M>V | No |
ClinGen ExAC |
|
CA413123903 rs1556807970 |
327 | F>L | No |
ClinGen gnomAD |
|
CA10418708 rs781992684 |
329 | R>C | No |
ClinGen ExAC gnomAD |
|
rs782133998 CA10418709 |
329 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781977698 CA10418711 |
330 | N>K | No |
ClinGen ExAC |
|
CA10418710 rs782346892 |
330 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418712 rs782055951 |
331 | R>C | No |
ClinGen ExAC gnomAD |
|
rs201895359 CA10418713 |
331 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs781890138 CA10418714 |
332 | S>L | No |
ClinGen ExAC gnomAD |
|
CA10418738 rs782740859 |
334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413124110 rs1556808020 |
334 | R>W | No |
ClinGen gnomAD |
|
CA413124167 rs1293666952 |
337 | S>F | No |
ClinGen TOPMed |
|
rs183690746 CA10418739 |
338 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413124252 rs1602103846 |
342 | I>V | No |
ClinGen Ensembl |
|
CA10418741 rs782710737 |
343 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413124285 rs1556808032 |
343 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA413124337 rs1160418050 |
345 | H>L | No |
ClinGen TOPMed gnomAD |
|
rs782545023 CA10418743 |
346 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA329170317 COSM1491064 rs782709479 |
346 | R>W | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs1000151289 CA329170333 |
348 | Q>R | No |
ClinGen TOPMed |
|
CA329170340 rs1033330656 |
350 | P>T | No |
ClinGen Ensembl |
|
rs781829924 CA10418745 |
352 | A>V | No |
ClinGen ExAC gnomAD |
|
rs376609801 CA10418746 |
353 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs369549099 CA10418747 |
353 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs782195059 CA10418748 |
354 | R>C | No |
ClinGen ExAC gnomAD |
|
CA10418749 rs782539542 |
354 | R>H | No |
ClinGen ExAC gnomAD |
|
CA10418751 rs782250059 |
356 | G>R | No |
ClinGen ExAC gnomAD |
|
rs782391917 CA10418752 |
358 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs781950604 CA10418753 |
360 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781950604 CA10418754 |
360 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA413124743 rs1556808059 |
362 | H>Q | No |
ClinGen gnomAD |
|
TCGA novel | 365 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10418756 rs781934817 |
368 | F>I | No |
ClinGen ExAC gnomAD |
|
rs1556808067 CA413124969 |
370 | N>S | No |
ClinGen gnomAD |
|
rs782138409 CA10418757 |
371 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA413125020 rs1602103967 |
372 | S>I | No |
ClinGen Ensembl |
|
CA10418758 rs782804078 |
373 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413125029 rs782804078 |
373 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1556808077 CA413125160 |
378 | R>G | No |
ClinGen gnomAD |
|
CA413125166 rs1236415661 |
378 | R>K | No |
ClinGen TOPMed |
|
CA413125171 rs1332513949 |
378 | R>S | No |
ClinGen TOPMed |
|
TCGA novel | 379 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10418759 rs781976001 |
379 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1172975380 CA413125330 |
382 | I>V | No |
ClinGen TOPMed |
|
rs1556808136 CA413125346 |
383 | I>F | No |
ClinGen gnomAD |
|
rs1556808138 CA413125360 |
383 | I>M | No |
ClinGen gnomAD |
|
CA10418780 rs145074661 |
384 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413125389 rs1191695472 |
385 | N>K | No |
ClinGen TOPMed |
|
rs1556808142 CA413125405 |
386 | D>H | No |
ClinGen gnomAD |
|
rs1257310880 CA413125463 |
388 | W>L | No |
ClinGen TOPMed |
|
CA10418783 rs373147193 |
393 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs782777372 CA10418784 |
393 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1556808160 CA413125605 |
395 | Y>D | No |
ClinGen gnomAD |
|
CA329170526 rs782371895 |
395 | Y>S | No |
ClinGen gnomAD |
|
CA413125692 rs1556808164 |
399 | R>G | No |
ClinGen gnomAD |
|
rs782082499 CA10418786 |
399 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1556808168 CA413125705 |
400 | G>S | No |
ClinGen gnomAD |
|
rs782744344 CA10418787 |
401 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781788409 CA10418788 |
402 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 405 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1246916510 CA413125779 |
405 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs782652162 CA413125814 |
407 | K>E | No |
ClinGen ExAC gnomAD |
|
rs782652162 CA10418790 |
407 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs1569228559 CA413125840 |
408 | Q>* | No |
ClinGen Ensembl |
|
rs782488550 CA413125894 |
410 | M>K | No |
ClinGen ExAC gnomAD |
|
rs782488550 CA10418792 |
410 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1556808185 CA413125881 |
410 | M>V | No |
ClinGen gnomAD |
|
CA413125919 rs1340777042 |
411 | K>R | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 412 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10418793 rs782653091 |
413 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1556808306 CA413126076 |
414 | K>N | No |
ClinGen gnomAD |
|
CA10418814 rs782251414 |
414 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418815 rs200525147 |
417 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1556808313 CA413126122 |
418 | R>I | No |
ClinGen gnomAD |
|
rs1267565173 CA413126150 |
419 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA413126189 rs1602104587 |
421 | V>M | No |
ClinGen Ensembl |
|
rs1556808320 CA413126248 |
424 | M>V | No |
ClinGen gnomAD |
|
CA413126275 rs1556808325 |
425 | E>G | No |
ClinGen gnomAD |
|
CA329170759 rs199605770 |
425 | E>K | No |
ClinGen gnomAD |
|
rs186095471 CA10418818 |
426 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10418817 rs782224348 |
426 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413126284 rs1489265950 |
426 | D>N | No |
ClinGen TOPMed |
|
rs782418192 CA10418821 |
427 | A>G | No |
ClinGen ExAC gnomAD |
|
CA10418820 rs782148691 |
427 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413126322 rs1221166474 |
428 | P>L | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 428 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1556808336 CA413126341 |
429 | D>E | No |
ClinGen gnomAD |
|
CA413126354 rs1324285451 |
430 | Y>C | No |
ClinGen TOPMed |
|
rs1556808344 CA413126404 |
433 | V>A | No |
ClinGen gnomAD |
|
CA413126396 rs1282801783 |
433 | V>L | No |
ClinGen TOPMed |
|
rs1222207205 CA413126513 |
439 | E>D | No |
ClinGen TOPMed |
|
CA10418823 rs782123120 |
439 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 440 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413126574 rs1430398506 |
443 | I>M | No |
ClinGen TOPMed |
|
rs1290001720 CA413126568 |
443 | I>S | No |
ClinGen TOPMed |
|
CA413126563 rs1342988999 |
443 | I>V | No |
ClinGen TOPMed |
|
rs1556808357 CA413126576 |
444 | D>N | No |
ClinGen gnomAD |
|
TCGA novel | 448 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782506300 CA10418829 |
450 | I>M | No |
ClinGen ExAC gnomAD |
|
CA413126746 rs1556808374 |
453 | S>F | No |
ClinGen gnomAD |
|
rs782211234 CA329170803 |
457 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1556808386 CA413126838 |
460 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1424197283 CA413126855 |
461 | Y>C | No |
ClinGen TOPMed |
|
CA10418831 rs781827520 |
461 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs985376172 CA329170826 |
462 | F>L | No |
ClinGen Ensembl |
|
rs782495382 CA10418832 |
462 | F>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 463 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 464 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10418834 rs782190267 |
468 | E>G | No |
ClinGen ExAC |
|
rs1556808394 CA413126982 |
471 | D>V | No |
ClinGen gnomAD |
|
COSM613041 CA413127005 rs1556808397 |
472 | I>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs149102271 CA10418835 |
472 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs782676402 CA10418836 |
473 | N>D | No |
ClinGen ExAC gnomAD |
|
rs143195586 CA10418837 |
473 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1556808406 CA413127031 |
474 | E>K | No |
ClinGen gnomAD |
|
TCGA novel | 476 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782152487 CA10418839 |
476 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs962609843 CA329170888 |
478 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA413127132 rs962609843 |
478 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA10418842 rs148286087 |
480 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
rs782167100 CA10418843 |
481 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418844 rs782765922 |
482 | P>S | No |
ClinGen ExAC gnomAD |
|
rs377693568 CA10418845 |
483 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA413127308 rs1556808422 |
484 | H>L | No |
ClinGen gnomAD |
|
CA413127320 rs1452883994 |
485 | N>D | No |
ClinGen TOPMed |
|
rs1556808425 CA413127329 |
485 | N>S | No |
ClinGen gnomAD |
|
rs201683434 CA10418849 |
489 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1556808440 COSM3780513 CA413127438 |
490 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1169578163 CA413127454 |
491 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 492 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA10418851 rs140520453 |
492 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1556808447 CA413127498 |
492 | T>S | No |
ClinGen gnomAD |
|
rs782807185 CA10418852 |
493 | T>I | No |
ClinGen ExAC gnomAD |
|
rs782642668 CA10418855 |
494 | D>G | No |
ClinGen ExAC gnomAD |
|
CA329171007 rs782705108 |
495 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782705108 CA10418857 |
495 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375540357 CA10418858 |
496 | N>D | No |
ClinGen ESP ExAC |
|
CA413127573 rs1556808459 |
496 | N>S | No |
ClinGen gnomAD |
|
rs782278185 CA10418860 |
497 | E>K | No |
ClinGen ExAC gnomAD |
|
rs138367420 CA329171048 |
498 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10418861 RCV000961815 rs138367420 |
498 | S>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781992463 CA10418864 |
500 | D>N | No |
ClinGen ExAC gnomAD |
|
CA329171057 rs979846106 |
501 | D>N | No |
ClinGen gnomAD |
|
COSM1190553 CA10418866 rs782344893 |
503 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs781969830 CA10418867 |
504 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1054706191 CA329171065 |
505 | T>A | No |
ClinGen Ensembl |
|
rs868992844 CA413127789 |
507 | N>D | No |
ClinGen gnomAD |
|
rs1556808484 CA413127798 |
507 | N>S | No |
ClinGen gnomAD |
|
rs891589662 CA329171083 |
508 | N>D | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 510 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs377587714 CA10418869 |
510 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10418870 rs782072659 |
512 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA413127935 rs1351587070 |
514 | N>D | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 514 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413128000 rs1556808501 |
516 | E>G | No |
ClinGen gnomAD |
|
CA10418873 rs370449744 |
516 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413127985 rs370449744 |
516 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10418874 rs782747918 |
517 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782080298 CA10418876 |
518 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413128037 rs782080298 |
518 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782080298 CA413128040 |
518 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413128068 rs868928234 |
519 | E>D | No |
ClinGen Ensembl |
|
CA413128092 COSM1122912 rs1556808508 |
521 | N>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA10418878 rs146112253 |
521 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10418879 rs781815242 CA413128130 |
522 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413128138 rs1248917220 |
523 | K>E | No |
ClinGen TOPMed |
|
CA10418880 rs782543175 |
525 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413128191 rs1359091165 |
525 | T>I | No |
ClinGen TOPMed |
|
CA10418882 rs374502411 |
529 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA413128328 rs1556808519 |
531 | N>K | No |
ClinGen gnomAD |
|
CA413128359 rs1241854521 |
533 | N>D | No |
ClinGen TOPMed |
|
CA10418884 rs782532031 |
533 | N>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 533 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1028963655 CA329171122 |
535 | N>D | No |
ClinGen TOPMed |
|
CA413128402 rs887866076 |
535 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA413128406 rs1369119886 |
536 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA10418885 rs782594117 |
538 | T>I | No |
ClinGen ExAC gnomAD |
|
CA10418888 rs367714830 |
539 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 540 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1556808535 CA413128496 |
540 | G>S | No |
ClinGen gnomAD |
|
CA413128542 rs1404330334 |
542 | N>S | No |
ClinGen TOPMed |
|
CA413128563 rs1363467745 |
543 | F>Y | No |
ClinGen TOPMed gnomAD |
|
rs1006265626 CA329171139 |
545 | K>R | No |
ClinGen Ensembl |
|
CA413128638 rs879997017 |
547 | G>D | No |
ClinGen Ensembl |
|
rs1160285011 CA413128635 |
547 | G>S | No |
ClinGen TOPMed |
|
TCGA novel | 548 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782652782 CA10418889 |
549 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA413128709 rs1556808560 |
550 | G>D | No |
ClinGen gnomAD |
|
rs1455511030 CA413128787 |
553 | G>A | No |
ClinGen TOPMed |
|
rs868986922 CA413128860 |
556 | Q>H | No |
ClinGen Ensembl |
|
rs781874099 CA329171146 |
560 | D>H | No |
ClinGen Ensembl |
|
CA413128960 rs1556808575 |
561 | S>G | No |
ClinGen gnomAD |
|
rs782276508 CA10418890 |
563 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1158678572 CA413129042 |
564 | E>D | No |
ClinGen TOPMed |
|
rs1556808582 CA413129057 |
565 | A>E | No |
ClinGen gnomAD |
|
CA413129078 rs1431551843 |
566 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs1490346927 CA413129273 |
572 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA329171159 rs782548409 |
578 | E>K | No |
ClinGen gnomAD |
|
TCGA novel | 579 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA329171183 rs371667688 |
583 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
rs782334662 CA10418897 |
584 | S>T | No |
ClinGen ExAC |
|
rs1313435123 CA413129604 |
586 | D>G | No |
ClinGen TOPMed |
|
CA10418898 rs781962409 |
587 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA329171197 rs782463233 |
588 | G>D | No |
ClinGen 1000Genomes |
|
CA413129660 rs1602105201 |
589 | N>D | No |
ClinGen Ensembl |
|
CA329171198 rs962228566 |
589 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA413129732 rs1556808608 |
593 | N>D | No |
ClinGen gnomAD |
|
CA10418900 rs782047479 |
593 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782799577 CA10418901 |
595 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782124596 CA10418904 COSM1122917 |
597 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1556808619 CA413129826 |
598 | D>Y | No |
ClinGen gnomAD |
|
CA10418908 rs781824070 |
600 | D>N | No |
ClinGen ExAC gnomAD |
|
CA413129913 rs1556808626 |
603 | I>L | No |
ClinGen gnomAD |
|
rs782480459 CA10418909 |
604 | E>K | No |
ClinGen ExAC gnomAD |
|
rs149418485 CA10418912 |
607 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413130094 rs1556808640 |
610 | I>T | No |
ClinGen gnomAD |
|
rs375418655 CA413130134 |
612 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM488455 CA10418915 rs375418655 |
612 | D>Y | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 613 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 614 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413130196 rs1556808648 |
614 | D>H | No |
ClinGen gnomAD |
|
rs782368578 CA10418916 |
615 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA413130284 rs1261552631 |
616 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs782300852 CA10418918 |
619 | D>E | No |
ClinGen ExAC |
|
CA10418919 rs782023215 |
621 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418921 rs782382894 |
623 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418922 rs782382894 |
623 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413130557 rs1569229209 |
624 | I>M | No |
ClinGen Ensembl |
|
rs1320826290 CA413130531 |
624 | I>V | No |
ClinGen TOPMed |
|
RCV000513236 CA413130613 rs1556808667 |
626 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs782761093 CA10418924 |
627 | I>V | No |
ClinGen ExAC gnomAD |
|
rs371990751 CA413130735 |
629 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10418927 rs782784563 |
630 | E>G | No |
ClinGen ExAC |
|
rs375123038 CA10418926 |
630 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375123038 CA413130746 |
630 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs147753284 CA10418929 |
632 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10418932 rs368159646 |
637 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781817389 CA10418933 |
639 | E>K | No |
ClinGen ExAC gnomAD |
|
CA10418980 rs147373370 |
640 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs959621239 CA329155878 |
642 | Q>E | No |
ClinGen TOPMed |
|
CA413098510 rs1602106274 |
643 | Q>R | No |
ClinGen Ensembl |
|
CA329155879 rs989601893 COSM3844984 |
645 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs782342167 CA10418981 |
646 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs782342167 CA10418982 |
646 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145146062 CA10418985 |
648 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA413098565 rs1556809163 |
651 | G>R | No |
ClinGen gnomAD |
|
rs782115678 CA10418987 |
653 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413098583 rs782013838 |
653 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA10418986 rs782013838 |
653 | Y>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 655 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1263344785 CA413098609 |
657 | G>R | No |
ClinGen TOPMed |
|
TCGA novel | 660 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs375981547 CA10418990 |
663 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
CA10418991 rs150975914 |
664 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA413098671 rs1556809182 |
665 | G>E | No |
ClinGen gnomAD |
|
rs1556809181 CA413098670 |
665 | G>R | No |
ClinGen gnomAD |
|
CA10418993 rs781811512 |
668 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413098694 rs781811512 |
668 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10418994 rs369016861 |
669 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA413098702 rs1437283793 |
670 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs868919123 CA413098714 |
671 | S>F | No |
ClinGen Ensembl |
|
rs377270693 CA10418997 |
677 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781788384 CA10418998 |
678 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs781788384 CA413098775 |
678 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 681 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs782609393 CA10418999 |
681 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs934271226 CA329155899 |
682 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA413098849 rs868980048 |
684 | A>T | No |
ClinGen Ensembl |
|
rs1050424399 CA329155901 |
685 | N>S | No |
ClinGen gnomAD |
|
rs370419229 CA10419002 |
686 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10419003 rs782276407 |
686 | P>L | No |
ClinGen ExAC gnomAD |
|
rs200976056 CA10419004 |
687 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA413098907 rs782004401 |
688 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10419006 rs181418147 |
689 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs782361864 CA10419007 |
689 | R>K | No |
ClinGen ExAC gnomAD |
|
rs782361864 CA413098916 |
689 | R>T | No |
ClinGen ExAC gnomAD |
|
CA329155915 rs201621148 |
691 | K>E | No |
ClinGen gnomAD |
|
CA413098959 rs1230959790 |
692 | T>I | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 692 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA413098961 rs1365995949 |
693 | G>R | No |
ClinGen TOPMed |
No associated diseases with Q9H2G4
No regional properties for Q9H2G4
Type | Name | Position | InterPro Accession |
---|---|---|---|
No domain, repeats, and functional sites for Q9H2G4 |
5 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
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. |
3 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. |
histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
rDNA binding | Binding to a DNA sequence encoding a ribosomal RNA. |
7 GO annotations of biological process
Name | Definition |
---|---|
cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
negative regulation of cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. |
negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
negative regulation of DNA replication | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication. |
nucleosome assembly | The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
regulation of protein kinase activity | Any process that modulates the frequency, rate or extent of protein kinase activity. |
regulation of signal transduction | Any process that modulates the frequency, rate or extent of signal transduction. |
15 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O19110 | TSPY1 | Testis-specific Y-encoded protein 1 | Bos taurus (Bovine) | PR |
P0DME0 | SETSIP | Protein SETSIP | Homo sapiens (Human) | SS |
Q8N831 | TSPYL6 | Testis-specific Y-encoded-like protein 6 | Homo sapiens (Human) | PR |
Q99457 | NAP1L3 | Nucleosome assembly protein 1-like 3 | Homo sapiens (Human) | PR |
P55209 | NAP1L1 | Nucleosome assembly protein 1-like 1 | Homo sapiens (Human) | PR |
Q01534 | TSPY1 | Testis-specific Y-encoded protein 1 | Homo sapiens (Human) | PR |
P0CV99 | TSPY4 | Testis-specific Y-encoded protein 4 | Homo sapiens (Human) | PR |
P0CV98 | TSPY3 | Testis-specific Y-encoded protein 3 | Homo sapiens (Human) | PR |
P0CW00 | TSPY8 | Testis-specific Y-encoded protein 8 | Homo sapiens (Human) | PR |
P0CW01 | TSPY10 | Testis-specific Y-encoded protein 10 | Homo sapiens (Human) | PR |
A6NKD2 | TSPY2 | Testis-specific Y-encoded protein 2 | Homo sapiens (Human) | PR |
Q01105 | SET | Protein SET | Homo sapiens (Human) | SS |
Q9H489 | TSPY26P | Putative testis-specific Y-encoded-like protein 3 | Homo sapiens (Human) | PR |
Q9EQU5 | Set | Protein SET | Mus musculus (Mouse) | EV |
Q63945 | Set | Protein SET | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MDRPDEGPPA | KTRRLSSSES | PQRDPPPPPP | PPPLLRLPLP | PPQQRPRLQE | ETEAAQVLAD |
70 | 80 | 90 | 100 | 110 | 120 |
MRGVGLGPAL | PPPPPYVILE | EGGIRAYFTL | GAECPGWDST | IESGYGEAPP | PTESLEALPT |
130 | 140 | 150 | 160 | 170 | 180 |
PEASGGSLEI | DFQVVQSSSF | GGEGALETCS | AVGWAPQRLV | DPKSKEEAII | IVEDEDEDER |
190 | 200 | 210 | 220 | 230 | 240 |
ESMRSSRRRR | RRRRRKQRKV | KRESRERNAE | RMESILQALE | DIQLDLEAVN | IKAGKAFLRL |
250 | 260 | 270 | 280 | 290 | 300 |
KRKFIQMRRP | FLERRDLIIQ | HIPGFWVKAF | LNHPRISILI | NRRDEDIFRY | LTNLQVQDLR |
310 | 320 | 330 | 340 | 350 | 360 |
HISMGYKMKL | YFQTNPYFTN | MVIVKEFQRN | RSGRLVSHST | PIRWHRGQEP | QARRHGNQDA |
370 | 380 | 390 | 400 | 410 | 420 |
SHSFFSWFSN | HSLPEADRIA | EIIKNDLWVN | PLRYYLRERG | SRIKRKKQEM | KKRKTRGRCE |
430 | 440 | 450 | 460 | 470 | 480 |
VVIMEDAPDY | YAVEDIFSEI | SDIDETIHDI | KISDFMETTD | YFETTDNEIT | DINENICDSE |
490 | 500 | 510 | 520 | 530 | 540 |
NPDHNEVPNN | ETTDNNESAD | DHETTDNNES | ADDNNENPED | NNKNTDDNEE | NPNNNENTYG |
550 | 560 | 570 | 580 | 590 | 600 |
NNFFKGGFWG | SHGNNQDSSD | SDNEADEASD | DEDNDGNEGD | NEGSDDDGNE | GDNEGSDDDD |
610 | 620 | 630 | 640 | 650 | 660 |
RDIEYYEKVI | EDFDKDQADY | EDVIEIISDE | SVEEEGIEEG | IQQDEDIYEE | GNYEEEGSED |
670 | 680 | 690 | |||
VWEEGEDSDD | SDLEDVLQVP | NGWANPGKRG | KTG |