Q92733
PR
Gene name |
PRCC (TPRC) |
Protein name |
Proline-rich protein PRCC |
Names |
Papillary renal cell carcinoma translocation-associated gene protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5546 |
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 Q92733
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92733-F1 | Predicted | AlphaFoldDB |
387 variants for Q92733
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA342906288 rs1294198270 RCV000505543 |
303 | P>L | Variant assessed as Somatic; 0.0 impact. YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA342890795 rs1226752435 |
2 | S>L | No |
ClinGen TOPMed |
|
|
rs754130413 CA1166772 |
7 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1408390180 CA342890928 |
7 | A>S | No |
ClinGen gnomAD |
|
|
COSM1472771 rs746351796 CA1166777 |
14 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs867155725 CA31070120 |
14 | P>S | No |
ClinGen Ensembl |
|
|
CA342891239 rs1353210633 |
16 | E>K | No |
ClinGen gnomAD |
|
|
CA342891295 rs1263048398 |
17 | A>G | No |
ClinGen gnomAD |
|
|
rs1222242073 CA342891280 |
17 | A>P | No |
ClinGen gnomAD |
|
|
rs183751504 CA1166781 CA1166780 |
18 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342891317 rs1203717995 |
18 | E>K | No |
ClinGen gnomAD |
|
|
rs1364176827 CA342891413 |
20 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201238070 CA1166783 |
20 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA31070144 rs975058208 |
21 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1425891701 CA342891485 |
23 | E>G | No |
ClinGen TOPMed |
|
|
rs920985356 CA31070152 |
23 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762776010 CA1166786 |
25 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1166787 rs766377337 |
25 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1178703165 CA342891541 |
25 | E>K | No |
ClinGen gnomAD |
|
|
CA342891672 rs561912320 |
29 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342891688 rs1181738550 |
29 | P>L | No |
ClinGen TOPMed |
|
|
CA1166789 rs561912320 |
29 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1270017988 CA342891705 |
30 | T>A | No |
ClinGen TOPMed |
|
|
rs1403485880 CA342891718 |
30 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 31 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342891765 rs1324866844 CA342891762 |
32 | G>R | No |
ClinGen gnomAD |
|
|
CA31070208 rs890278357 |
32 | G>V | No |
ClinGen Ensembl |
|
|
CA342891784 rs200228818 |
33 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342891800 rs1336812587 |
33 | P>L | No |
ClinGen gnomAD |
|
|
CA1166790 rs200228818 |
33 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342891815 rs559444177 |
34 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1166792 rs559444177 |
34 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1483934311 CA342891834 |
34 | A>V | No |
ClinGen gnomAD |
|
|
rs750560253 CA1166794 |
36 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs780562511 CA342891907 |
37 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342891901 rs1200833484 |
37 | G>S | No |
ClinGen gnomAD |
|
|
rs780562511 CA1166796 |
37 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168779906 CA342891933 |
38 | L>F | No |
ClinGen gnomAD |
|
|
rs752075364 CA1166797 |
38 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1432260233 CA342891998 |
40 | A>G | No |
ClinGen TOPMed |
|
|
CA1166798 rs755270609 |
40 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1166799 rs755270609 |
40 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769533766 CA1166801 |
41 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368968762 CA31070255 |
42 | L>F | No |
ClinGen gnomAD |
|
|
rs1407311187 CA342892033 |
42 | L>H | No |
ClinGen gnomAD |
|
|
rs770368160 CA1166804 |
43 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1166803 rs748789238 |
43 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057045698 CA31070264 |
44 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1057045698 CA342892098 |
44 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1250430319 CA342892121 |
45 | P>H | No |
ClinGen TOPMed |
|
|
CA342892113 rs1219745262 |
45 | P>S | No |
ClinGen gnomAD |
|
|
CA342892154 rs1464485246 |
46 | K>R | No |
ClinGen TOPMed |
|
|
CA1166807 rs771983943 |
47 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs112874956 CA1166808 |
48 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112874956 CA1166809 |
48 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1166810 rs765463107 |
49 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA31070328 rs780403569 |
50 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 52 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774288965 CA1166812 |
52 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443046072 CA342892289 |
52 | P>S | No |
ClinGen gnomAD |
|
|
rs1459764418 CA342892336 |
53 | P>L | No |
ClinGen gnomAD |
|
|
CA1166813 rs766451702 |
53 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1166814 rs532963956 |
54 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755536156 CA1166815 |
54 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs926376164 CA31070368 |
55 | P>L | No |
ClinGen Ensembl |
|
|
rs1263397814 CA342892356 |
55 | P>S | No |
ClinGen TOPMed |
|
|
rs1295709392 CA342892368 |
56 | Q>H | No |
ClinGen gnomAD |
|
|
CA31070376 rs959089845 |
56 | Q>L | No |
ClinGen gnomAD |
|
|
CA31070398 rs1044427821 |
57 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA31070420 rs111734460 |
60 | P>Q | No |
ClinGen Ensembl |
|
|
CA342892405 rs1313912847 |
60 | P>S | No |
ClinGen gnomAD |
|
|
rs1359978041 CA342892422 |
61 | A>S | No |
ClinGen gnomAD |
|
|
CA1166818 rs756463854 |
63 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA342892453 rs1363662629 |
63 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1388083996 CA342892470 |
64 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA342892463 rs202133272 |
64 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1166820 rs202133272 |
64 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1166821 rs531135622 |
65 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1166822 rs369713102 |
65 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342892475 rs531135622 |
65 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567531011 CA1166823 |
66 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1166824 rs772178388 |
67 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1327168387 CA342892525 |
69 | P>R | No |
ClinGen gnomAD |
|
|
rs534844339 CA1166826 |
70 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534844339 CA31070492 |
70 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1166825 COSM1334942 rs775602188 |
70 | P>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs1390282491 CA342892555 |
72 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs763152903 CA1166829 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1379417301 CA342892579 |
74 | D>N | No |
ClinGen gnomAD |
|
|
CA1166831 rs377700073 |
76 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760003678 CA1166832 |
77 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226030528 CA342892654 |
79 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA342892648 rs1239751093 |
79 | P>S | No |
ClinGen gnomAD |
|
|
CA31070525 rs1047639389 |
80 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1047639389 CA342892664 |
80 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1269935035 CA342892659 |
80 | P>S | No |
ClinGen gnomAD |
|
|
rs767971119 CA1166833 |
81 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243773256 CA342892668 |
81 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1243773256 CA342892666 |
81 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1166834 rs200950423 |
82 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764367407 CA1166837 |
82 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA342892678 rs764367407 |
82 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764367407 CA1166836 |
82 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1166835 rs200950423 |
82 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757023118 CA1166838 |
84 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1306727628 CA342892696 |
85 | F>C | No |
ClinGen TOPMed |
|
|
rs1162082209 CA342892698 |
85 | F>L | No |
ClinGen gnomAD |
|
|
rs1291632562 CA342892709 |
86 | G>V | No |
ClinGen gnomAD |
|
|
CA1166840 rs745333923 |
88 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1359197752 CA342892725 |
88 | G>E | No |
ClinGen gnomAD |
|
|
CA342892731 rs1449784813 |
89 | G>S | No |
ClinGen gnomAD |
|
|
rs1372428985 CA342892753 |
90 | F>S | No |
ClinGen gnomAD |
|
|
rs571619164 CA1166843 |
91 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342892766 rs1290187752 |
91 | P>S | No |
ClinGen gnomAD |
|
|
CA1166846 rs749502168 |
92 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1166847 rs749502168 |
92 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774586282 CA1166848 |
93 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202768276 CA342892803 |
94 | P>S | No |
ClinGen gnomAD |
|
|
rs996911856 CA31070588 |
96 | V>A | No |
ClinGen gnomAD |
|
|
rs1481188249 CA342892826 |
96 | V>M | No |
ClinGen gnomAD |
|
|
rs1183103898 CA342892842 |
97 | S>N | No |
ClinGen TOPMed |
|
|
rs767594411 CA1166850 |
97 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480416736 CA342892861 |
98 | P>L | No |
ClinGen gnomAD |
|
|
rs1480416736 CA342892859 |
98 | P>R | No |
ClinGen gnomAD |
|
|
rs1425280476 CA342892873 |
99 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309655164 CA342892940 |
104 | V>A | No |
ClinGen gnomAD |
|
|
CA342892937 rs1429934172 |
104 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA342892942 rs1309655164 |
104 | V>G | No |
ClinGen gnomAD |
|
|
CA342892933 rs1429934172 |
104 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA31070625 rs970366793 |
106 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
| TCGA novel | 106 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404270759 CA342892979 |
108 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761149472 CA1166852 |
109 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754197287 CA342892998 |
112 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295188705 CA342893008 |
113 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1207517062 CA342893014 |
114 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA31070675 rs983827076 |
115 | P>L | No |
ClinGen TOPMed |
|
|
CA342893028 rs1490272928 |
117 | G>S | No |
ClinGen gnomAD |
|
|
CA342893055 rs1441928001 |
119 | G>D | No |
ClinGen TOPMed |
|
|
CA342893079 rs1248928448 |
121 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1166857 rs539107958 |
123 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31070689 rs893804759 |
124 | P>S | No |
ClinGen Ensembl |
|
|
CA1166859 rs374655155 |
125 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1010267461 CA31070690 |
125 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1021213741 CA31070704 |
126 | I>M | No |
ClinGen Ensembl |
|
|
CA1166860 rs113714123 |
126 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324173475 CA342893183 |
130 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342893181 rs1324173475 |
130 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1558043333 CA342893191 |
130 | G>V | No |
ClinGen Ensembl |
|
|
CA1166862 rs575593280 |
132 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553251847 CA342893211 |
132 | P>Q | No |
ClinGen Ensembl |
|
|
CA342893206 rs575593280 |
132 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575593280 CA342893208 |
132 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1365940520 CA342893229 |
134 | G>E | No |
ClinGen gnomAD |
|
|
CA1166864 rs769597905 |
136 | P>H | No |
ClinGen ExAC gnomAD |
|
|
VAR_024341 rs11264542 CA1166863 |
136 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA342893281 rs1359222788 |
138 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342893279 rs1359222788 |
138 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755198982 CA31070755 |
139 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA31070750 rs948635067 |
139 | K>R | No |
ClinGen TOPMed |
|
|
rs1033779350 CA31070762 |
140 | K>E | No |
ClinGen TOPMed |
|
|
CA342893312 CA342893314 rs1445802151 |
140 | K>N | No |
ClinGen gnomAD |
|
|
CA342893319 rs1215617800 |
141 | R>K | No |
ClinGen gnomAD |
|
|
rs1044355401 CA31070781 |
144 | P>L | No |
ClinGen TOPMed |
|
|
rs1190182847 CA342893396 |
145 | V>L | No |
ClinGen gnomAD |
|
|
CA342893410 rs1159238714 |
146 | K>* | No |
ClinGen gnomAD |
|
|
rs1382974997 CA342893451 |
148 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1382974997 CA342893447 |
148 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1382141861 CA342893481 |
150 | P>R | No |
ClinGen TOPMed |
|
|
rs375857609 CA342893490 |
151 | E>* | No |
ClinGen gnomAD |
|
|
CA31070797 rs375857609 |
151 | E>K | No |
ClinGen gnomAD |
|
|
CA31070808 rs925929279 |
152 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772131899 CA1166867 |
154 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA342893600 rs1389549594 |
155 | G>* | No |
ClinGen gnomAD |
|
|
CA342893590 rs1389549594 |
155 | G>R | No |
ClinGen gnomAD |
|
|
rs1437325031 CA342893627 |
156 | D>G | No |
ClinGen gnomAD |
|
|
rs1242937155 CA342893620 |
156 | D>N | No |
ClinGen gnomAD |
|
|
CA31077644 rs539538416 |
159 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1280295060 CA342899376 |
164 | P>A | No |
ClinGen gnomAD |
|
|
rs780941910 CA1166879 |
165 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs369324476 CA1166880 |
167 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374062247 CA1166883 |
170 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342899594 rs1466612613 |
170 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs374062247 COSM329045 CA1166882 |
170 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs139727655 CA342899671 |
172 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139727655 CA1166884 |
172 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139727655 CA342899667 |
172 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1027765364 CA31079250 |
174 | S>F | No |
ClinGen TOPMed |
|
|
rs1211350610 CA342902271 |
176 | E>D | No |
ClinGen TOPMed |
|
|
rs1392106570 CA342902366 |
179 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342902451 rs1324955885 |
183 | L>F | No |
ClinGen gnomAD |
|
|
CA342902483 rs1324108865 |
186 | Q>* | No |
ClinGen gnomAD |
|
|
rs1264749907 CA342902503 |
186 | Q>H | No |
ClinGen TOPMed |
|
|
CA342902559 rs1571586433 |
189 | N>T | No |
ClinGen Ensembl |
|
|
CA342902717 rs780086294 |
195 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1166904 rs780086294 |
195 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA342902768 rs1236171270 |
197 | R>T | No |
ClinGen gnomAD |
|
|
rs151117901 CA1166906 |
201 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747263092 CA1166905 |
201 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs370116830 CA1166907 |
202 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443225492 CA342903934 |
203 | A>G | No |
ClinGen gnomAD |
|
|
CA1166909 rs541774348 |
206 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459906828 CA342903985 |
206 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1459906828 CA342903989 |
206 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs527365072 CA31079285 |
208 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1166910 rs527365072 |
208 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749566087 CA1166911 |
209 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342904072 rs1320867614 |
211 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366943395 CA342904109 |
214 | D>H | No |
ClinGen gnomAD |
|
|
rs1478489449 CA342904116 |
214 | D>V | No |
ClinGen TOPMed |
|
|
rs1449966096 CA342904120 |
215 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342904130 rs1311752988 |
216 | K>T | No |
ClinGen gnomAD |
|
|
rs1014675398 CA31079295 |
217 | P>L | No |
ClinGen TOPMed |
|
|
CA1166912 rs373710338 |
217 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773805279 CA1166914 |
218 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs377117820 CA31079325 |
219 | R>T | No |
ClinGen ESP |
|
|
CA342904181 rs1328635931 |
220 | L>V | No |
ClinGen gnomAD |
|
|
rs1252126593 CA342904193 |
221 | A>S | No |
ClinGen TOPMed |
|
|
rs199817156 CA1166915 |
221 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1460151900 CA342904245 |
224 | T>P | No |
ClinGen gnomAD |
|
|
rs1460151900 CA342904248 |
224 | T>S | No |
ClinGen gnomAD |
|
|
CA31079332 rs767407818 |
225 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1571586642 CA342904290 |
226 | T>P | No |
ClinGen Ensembl |
|
|
CA1166917 rs201490397 |
229 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342904373 rs201490397 |
229 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411842850 CA342904416 |
230 | A>V | No |
ClinGen gnomAD |
|
|
rs760212269 CA342904439 |
231 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760212269 CA1166918 |
231 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1390119658 CA342904477 |
233 | V>L | No |
ClinGen gnomAD |
|
|
CA31079369 rs992012007 |
235 | T>I | No |
ClinGen TOPMed |
|
|
CA342904509 rs1571586691 |
235 | T>P | No |
ClinGen Ensembl |
|
|
CA342904530 rs1464243337 |
236 | T>K | No |
ClinGen gnomAD |
|
|
rs374228522 CA1166920 |
237 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31079375 rs77922388 |
237 | T>P | No |
ClinGen gnomAD |
|
|
CA1166921 rs374228522 |
237 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1166922 rs765147008 |
240 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342904604 rs765147008 |
240 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433823518 CA342904598 |
240 | P>S | No |
ClinGen TOPMed |
|
|
rs770347241 CA31079396 |
241 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1571586766 CA342904678 |
244 | A>V | No |
ClinGen Ensembl |
|
|
CA1166928 rs778366157 |
245 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760291959 CA1166927 |
245 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1558051442 CA342904684 COSM1295247 |
245 | I>V | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1415073553 CA342904850 |
252 | A>S | No |
ClinGen TOPMed |
|
|
CA342904884 rs1427321631 |
253 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 255 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749805693 CA1166929 |
256 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749805693 CA342904950 |
256 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374010387 CA1166930 |
258 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1166931 rs774832156 |
261 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs771749507 CA1166933 |
263 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA31079460 rs536014100 |
264 | E>D | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 266 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM897359 CA1166936 rs372209269 |
270 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs776432747 CA1166937 |
272 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs371680888 CA1166939 |
273 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547571520 CA1166941 |
274 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767797644 CA1166942 |
280 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342905632 rs1203204311 |
280 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767797644 CA342905628 |
280 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141772031 CA1166944 |
286 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342905784 rs1331311509 |
286 | P>L | No |
ClinGen TOPMed |
|
|
rs141772031 CA31079567 |
286 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1166945 rs778061564 |
288 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA342905943 rs1361029108 |
292 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1166946 rs749741851 |
293 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA31079586 rs892093928 |
294 | P>A | No |
ClinGen gnomAD |
|
|
rs1425215011 CA342906008 |
294 | P>R | No |
ClinGen gnomAD |
|
|
rs779113261 CA1166948 |
297 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1045946921 CA31079596 |
298 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1430128690 CA342906129 |
299 | P>A | No |
ClinGen gnomAD |
|
|
CA1166950 rs772442139 |
300 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342906154 rs1222403163 |
300 | E>G | No |
ClinGen gnomAD |
|
|
CA1166952 rs746735479 |
303 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1369747181 CA342906308 |
304 | P>R | No |
ClinGen gnomAD |
|
|
CA1166953 rs139572885 |
306 | T>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139572885 CA1166954 |
306 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144413095 CA1166955 |
308 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1473081570 CA342906411 |
308 | P>S | No |
ClinGen TOPMed |
|
|
rs769733198 CA1166956 COSM302984 |
310 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs887446374 CA31079672 |
311 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342906499 rs887446374 |
311 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs148803856 CA1166958 |
313 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766280782 CA1166959 |
314 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1166961 rs142005569 COSM1334946 |
315 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs896261026 CA31079719 |
315 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA342906750 rs1411276348 |
318 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1165380588 CA342906774 |
319 | A>G | No |
ClinGen gnomAD |
|
|
CA342906761 rs1404708481 |
319 | A>T | No |
ClinGen gnomAD |
|
|
CA342906795 rs1432952931 |
320 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1366230906 CA342906804 |
321 | L>F | No |
ClinGen gnomAD |
|
|
CA342906815 rs1571587179 |
321 | L>P | No |
ClinGen Ensembl |
|
|
rs760706144 CA1166964 |
322 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1166965 rs779420212 |
324 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA342906897 rs1356070172 |
324 | K>R | No |
ClinGen gnomAD |
|
|
CA342906965 rs1211544265 |
326 | A>E | No |
ClinGen gnomAD |
|
|
CA342906967 rs1292605490 |
327 | A>T | No |
ClinGen gnomAD |
|
|
rs1206305871 CA342906988 |
328 | G>D | No |
ClinGen gnomAD |
|
|
CA1166966 rs750901850 |
329 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs758761021 CA1166967 |
331 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1166970 rs768338970 |
333 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1166969 rs746643358 |
333 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 335 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415849179 CA342907229 |
336 | P>S | No |
ClinGen gnomAD |
|
|
CA342907292 rs747646876 CA342907290 |
337 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31079774 rs979759270 |
337 | K>T | No |
ClinGen TOPMed |
|
|
CA1166973 rs199850207 |
338 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1571587299 CA342907380 |
340 | D>G | No |
ClinGen Ensembl |
|
|
rs201067535 CA1166976 |
341 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763050429 CA1166975 |
341 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774334000 CA1166977 |
342 | Y>N | No |
ClinGen ExAC |
|
|
CA342907579 rs1449181294 |
343 | S>G | No |
ClinGen gnomAD |
|
|
CA342907645 rs1427378083 |
344 | Y>C | No |
ClinGen gnomAD |
|
|
rs760945152 CA1166978 |
345 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760945152 CA31079839 |
345 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31079847 rs964246738 |
345 | N>S | No |
ClinGen Ensembl |
|
|
rs1349210884 CA342907736 |
346 | Q>H | No |
ClinGen gnomAD |
|
|
CA342907809 rs1228246905 |
348 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1171462406 CA342907912 |
352 | D>G | No |
ClinGen gnomAD |
|
|
CA31079858 rs988200835 |
352 | D>N | No |
ClinGen TOPMed |
|
|
CA31079863 rs975262989 |
354 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761888870 CA1166981 |
356 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1166982 rs765303969 |
357 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs936069110 CA31079889 |
361 | Q>E | No |
ClinGen TOPMed |
|
|
CA342911816 rs1162148897 |
362 | D>G | No |
ClinGen TOPMed |
|
|
CA1167030 rs763787715 |
369 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1394045887 CA342912106 |
370 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA31082552 rs768993732 |
374 | P>L | No |
ClinGen gnomAD |
|
|
rs756825025 CA1167032 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1167034 rs377429293 |
375 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1167036 rs758308555 |
377 | V>A | No |
ClinGen ExAC |
|
|
CA1167037 rs780076114 |
378 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA342912270 rs780076114 |
378 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA342912265 rs1262687240 |
378 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs17850664 CA1167039 |
379 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342912286 rs146298751 |
379 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146298751 CA1167040 |
379 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17850664 CA342912280 |
379 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1167038 rs17850664 |
379 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1167043 rs35929266 |
380 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35929266 CA31082564 |
380 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778683789 | 380 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342912317 rs1409215467 |
380 | Q>R | No |
ClinGen gnomAD |
|
|
CA1167045 rs772417983 |
386 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359458621 CA342912624 |
390 | D>G | No |
ClinGen gnomAD |
|
|
CA342912613 rs1416593753 |
390 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs996666564 CA31083605 |
403 | R>Q | No |
ClinGen gnomAD |
|
|
rs1487199456 CA342913532 |
405 | R>K | No |
ClinGen gnomAD |
|
|
rs1474099222 CA342913655 |
408 | I>V | No |
ClinGen TOPMed |
|
|
CA342913768 rs1194265403 |
411 | V>M | No |
ClinGen TOPMed |
|
|
rs201737748 CA342913949 |
417 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1167067 rs761304173 |
420 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 422 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1167068 rs769121851 |
426 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1167070 rs374305368 |
432 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1167071 rs764938828 |
432 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31083639 rs867195457 |
435 | T>A | No |
ClinGen Ensembl |
|
|
CA1167073 rs762306224 |
436 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1373475388 CA342914595 |
436 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1167074 rs557842343 |
437 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1167075 rs751435855 |
438 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1182255417 CA342914726 |
440 | S>R | No |
ClinGen gnomAD |
|
|
rs1288341768 CA342914741 |
441 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA31089655 rs1029685906 |
444 | G>C | No |
ClinGen Ensembl |
|
|
rs994534199 CA31089657 |
445 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 454 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777304094 COSM211975 CA1167088 |
456 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748469795 CA1167089 |
457 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770289810 CA1167090 |
462 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA31091135 rs920562638 |
465 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA342918503 rs1211591622 |
466 | E>A | No |
ClinGen gnomAD |
|
|
CA1167104 rs755126737 |
467 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342918512 COSM1600983 rs1306374854 |
467 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs773672891 CA1167108 |
474 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773672891 CA342918625 |
474 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA31091142 rs929559843 |
477 | E>D | No |
ClinGen Ensembl |
|
|
CA342918677 rs1424993561 |
477 | E>G | No |
ClinGen gnomAD |
|
|
CA1167109 rs748857958 |
480 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1175858968 CA342918746 |
482 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1167111 rs770573419 |
482 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs375603182 CA1167113 |
483 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327629114 CA342918785 |
485 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443973112 CA342918867 |
489 | Y>* | No |
ClinGen gnomAD |
1 associated diseases with Q92733
Without disease ID
No regional properties for Q92733
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92733 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 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. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLVAYASSD | ESEPDEAEPE | PEEEEAVAPT | SGPALGGLFA | SLPAPKGPAL | LPPPPQMLAP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AFPPPLLLPP | PTGDPRLQPP | PPLPFGLGGF | PPPPGVSPAE | AAGVGEGLGL | GLPSPRGPGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLPPPIGGAG | PPLGLPKPKK | RKEPVKIAAP | ELHKGDSDSE | EDEPTKKKTI | LQGSSEGTGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SALLPQPKNL | TVKETNRLLL | PHAFSRKPSD | GSPDTKPSRL | ASKTKTSSLA | PVVGTTTTTP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPSAIKAAAK | SAALQVTKQI | TQEEDDSDEE | VAPENFFSLP | EKAEPPGVEP | YPYPIPTVPE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELPPGTEPEP | AFQDDAANAP | LEFKMAAGSS | GAPWMPKPGD | DYSYNQFSTY | GDANAAGAYY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QDYYSGGYYP | AQDPALVPPQ | EIAPDASFID | DEAFKRLQGK | RNRGREEINF | VEIKGDDQLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GAQQWMTKSL | TEEKTMKSFS | KKKGEQPTGQ | QRRKHQITYL | IHQAKERELE | LKNTWSENKL |
| 490 | |||||
| SRRQTQAKYG | F |