Q504U0
Gene name |
C4orf46 (RCDG1) |
Protein name |
Renal cancer differentiation gene 1 protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:201725 |
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 Q504U0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q504U0-F1 | Predicted | AlphaFoldDB |
101 variants for Q504U0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA108841634 rs575518153 |
2 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs575518153 CA358572967 |
2 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs771997932 CA3122233 |
3 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1272115230 CA358572956 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA3122232 rs376877943 |
4 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773359219 CA3122231 |
6 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358572919 rs1213853219 |
9 | V>A | No |
ClinGen gnomAD |
|
|
rs1371638862 CA358572912 |
10 | S>F | No |
ClinGen gnomAD |
|
|
rs748375809 CA3122229 |
11 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA108841614 rs926767530 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA108841609 rs926767530 |
14 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358572890 rs1392603455 |
14 | P>S | No |
ClinGen gnomAD |
|
|
CA358572873 rs1426922881 |
15 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867000557 CA108841602 |
17 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs867000557 CA358572861 |
17 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867000557 CA358572862 |
17 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA108841591 rs890415256 |
18 | S>A | No |
ClinGen TOPMed |
|
|
rs1168955625 CA358572848 |
18 | S>F | No |
ClinGen gnomAD |
|
|
rs755273406 CA3122227 |
21 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1422720817 CA358572777 |
24 | D>H | No |
ClinGen Ensembl |
|
|
CA358572757 rs1252018754 |
25 | A>D | No |
ClinGen gnomAD |
|
|
CA3122224 rs758832408 |
27 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs145167320 CA358572741 |
27 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3122225 rs145167320 |
27 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217265882 CA358572714 |
29 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA358572703 rs1203194299 |
30 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3122222 rs750945797 |
31 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358572698 rs1348561367 |
31 | P>T | No |
ClinGen gnomAD |
|
|
rs753459998 CA3122220 |
33 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358572679 rs1300857693 |
33 | G>R | No |
ClinGen gnomAD |
|
|
rs753459998 CA3122219 |
33 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3122218 rs141418697 |
34 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141418697 CA358572669 |
34 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1431310877 CA358572642 |
36 | S>N | No |
ClinGen TOPMed |
|
|
rs146620946 CA3122215 CA108841533 |
37 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3122214 rs142913539 |
38 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA108841494 rs148543446 |
39 | W>R | No |
ClinGen ESP |
|
|
rs866237356 CA108841489 |
40 | P>L | No |
ClinGen Ensembl |
|
|
CA108841482 rs140932563 COSM106372 |
42 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1376629005 CA358572573 |
43 | S>T | No |
ClinGen gnomAD |
|
|
rs373406193 CA3122212 CA3122213 |
44 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs922235644 CA108841475 |
44 | R>T | No |
ClinGen Ensembl |
|
|
rs145770834 CA108841468 |
45 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA108841474 rs1038393624 |
45 | S>R | No |
ClinGen TOPMed |
|
|
rs149785447 CA3122210 |
46 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149785447 CA3122209 |
46 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776593810 CA3122208 |
47 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358572526 rs1303403286 |
47 | G>D | No |
ClinGen TOPMed |
|
|
CA358572535 rs776593810 |
47 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247955351 CA358572522 |
48 | P>A | No |
ClinGen gnomAD |
|
|
CA358572505 rs369968557 |
49 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369968557 CA108841439 |
49 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369968557 CA3122207 |
49 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747196215 CA3122206 |
51 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358572468 rs1580385420 |
52 | Q>P | No |
ClinGen Ensembl |
|
|
CA3122203 rs746373666 |
55 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs140720883 CA3122204 |
55 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750487027 CA3122202 |
56 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA108841423 rs989473296 |
57 | E>D | No |
ClinGen TOPMed |
|
|
CA108841418 rs934321799 |
58 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1305087324 CA358572383 |
59 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3122200 rs753342205 |
61 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358572352 rs1315359130 |
62 | D>N | No |
ClinGen gnomAD |
|
|
CA3122166 rs764234322 |
64 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764234322 CA3122165 |
64 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358572079 rs1211934828 |
65 | F>I | No |
ClinGen gnomAD |
|
|
rs1271299253 CA358572020 |
69 | K>* | No |
ClinGen gnomAD |
|
|
CA358572016 rs1230176358 |
69 | K>R | No |
ClinGen gnomAD |
|
|
rs759787177 CA3122161 |
71 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358571996 rs759787177 |
71 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA108839702 rs761268688 |
71 | L>P | No |
ClinGen TOPMed |
|
|
CA358571963 rs1442064769 |
73 | A>D | No |
ClinGen gnomAD |
|
|
rs1396513721 CA358571905 |
78 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002527185 CA108839684 |
80 | Q>E | No |
ClinGen TOPMed |
|
|
rs749789362 CA3122158 COSM1198858 |
83 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778183157 CA3122157 |
85 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1331413334 CA358571824 |
85 | A>P | No |
ClinGen TOPMed |
|
|
rs747561747 CA3122155 |
87 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780878022 CA3122154 |
88 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs906840277 CA108839634 |
88 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA108839631 rs1022643681 |
89 | T>A | No |
ClinGen gnomAD |
|
|
CA108839628 rs796351756 |
89 | T>K | No |
ClinGen Ensembl |
|
|
CA108839626 rs560001533 |
90 | E>G | No |
ClinGen 1000Genomes |
|
|
CA108839627 rs796907635 |
90 | E>K | No |
ClinGen Ensembl |
|
|
CA3122150 rs145987500 |
93 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145987500 CA3122151 |
93 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3122149 rs779978054 |
93 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1428299 CA3122147 rs765140061 CA3122146 |
98 | W>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA358571639 rs1335972990 |
99 | R>Q | No |
ClinGen gnomAD |
|
|
CA358571641 COSM1052669 rs1435398716 |
99 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs947377817 CA108839595 |
101 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141266470 CA108839591 |
105 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752735762 CA3122144 |
110 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3122142 rs759697233 |
111 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA358571519 rs1392959367 |
113 | D>N | No |
ClinGen gnomAD |
|
|
CA358571504 rs1477855958 |
114 | D>C | No |
ClinGen gnomAD |
|
|
rs1171773479 CA358571510 |
114 | D>R | No |
ClinGen gnomAD |
|
|
rs1481695026 CA358571508 |
114 | D>S | No |
ClinGen TOPMed |
No associated diseases with Q504U0
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0II83 | Uncharacterized protein C4orf46 homolog | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADPEELQVS | SPPPPPPSSP | SSSDASAASS | PGGPVSLGWP | VPSRSSGPTV | DQLEEVELQI |
| 70 | 80 | 90 | 100 | 110 | |
| GDAAFSLTKL | LEATSAVSAQ | VEELAFKCTE | NARFLKTWRD | LLKEGYDSLK | PDD |