A8MV24
Gene name |
C17orf98 |
Protein name |
Uncharacterized protein C17orf98 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:388381 |
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 A8MV24
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A8MV24-F1 | Predicted | AlphaFoldDB |
167 variants for A8MV24
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs748862711 CA8526417 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8526415 rs747606930 |
3 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781022421 CA8526413 |
4 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA398780966 rs750179754 |
4 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8526411 rs201466719 |
6 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8526412 rs757056522 |
6 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1451228715 CA398780927 |
7 | C>R | No |
TOPMed gnomAD ClinGen |
|
|
CA398780916 rs1280868459 |
8 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 8 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398780892 rs1346955260 |
10 | R>L | No |
gnomAD ClinGen |
|
|
CA398780840 rs1218350616 |
14 | G>A | No |
ClinGen TOPMed |
|
|
rs1187664347 CA398780801 |
17 | L>S | No |
ClinGen gnomAD |
|
|
CA8526407 rs766483222 CA398780784 |
18 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398780786 rs1211455826 |
18 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 18 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 19 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8526405 rs773702400 |
19 | G>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 19 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773702400 CA8526406 |
19 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 20 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762275873 CA398780778 |
20 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs762275873 CA8526403 |
20 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs528140278 CA290323352 |
23 | S>G | No |
Ensembl ClinGen |
|
|
rs1166691794 CA398780757 |
23 | S>R | No |
gnomAD ClinGen |
|
|
rs1390841446 CA398780749 |
25 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs748725064 CA8526400 |
26 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470625610 CA398780727 |
28 | A>V | No |
TOPMed ClinGen |
|
|
CA8526397 rs745463786 |
29 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs373358342 CA8526395 |
30 | G>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA290323311 rs866750911 |
31 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA290323308 rs1018607904 |
31 | R>H | No |
ClinGen TOPMed |
|
|
CA398780714 rs866750911 |
31 | R>S | No |
ClinGen Ensembl |
|
|
rs1342849116 CA398780710 |
32 | S>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1028367126 CA290323304 |
33 | R>W | No |
Ensembl ClinGen |
|
|
rs369883104 CA290323300 |
34 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ESP ClinGen NCI-TCGA |
|
CA398780629 rs1567683427 |
37 | W>R | No |
Ensembl ClinGen |
|
|
rs1243140132 CA398780618 |
37 | W>S | No |
gnomAD ClinGen |
|
| TCGA novel | 38 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8526394 rs746825476 |
38 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA8526392 rs758405695 |
39 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA8526391 rs766541161 |
41 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8526390 rs766541161 |
41 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766541161 CA398780539 |
41 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409881463 CA398780529 |
42 | P>S | No |
ClinGen gnomAD |
|
|
CA398780512 rs1371788553 |
43 | Y>C | No |
ClinGen gnomAD |
|
|
CA290323274 rs975403556 |
43 | Y>H | No |
gnomAD ClinGen |
|
|
rs375513531 CA398780500 |
44 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8526386 rs373474691 |
44 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201194773 CA8526387 |
44 | N>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs375513531 CA8526388 |
44 | N>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8526384 rs764504486 |
45 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA290323235 rs764504486 |
45 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
| TCGA novel | 45 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290323222 rs1685888 |
46 | Q>H | No |
Ensembl ClinGen |
|
|
rs763572126 CA398780459 |
46 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763572126 CA8526383 |
46 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1685889 CA290323212 |
47 | Q>E | No |
ClinGen Ensembl |
|
|
CA8526382 rs61752602 |
47 | Q>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 48 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221061151 CA398780442 |
48 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1221061151 CA398780440 |
48 | D>Y | No |
ClinGen TOPMed |
|
|
rs374779578 CA8526380 |
49 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276701815 CA398780434 |
49 | Y>H | No |
ClinGen gnomAD |
|
|
CA8526379 rs745411971 |
50 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290009610 CA398780422 |
50 | H>Q | No |
gnomAD ClinGen |
|
|
rs371239248 CA8526378 |
51 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414154416 CA398780416 |
51 | A>V | No |
gnomAD ClinGen |
|
| TCGA novel | 52 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8526377 rs770615199 |
53 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs1278080154 CA398780401 |
54 | Y>D | No |
ClinGen gnomAD |
|
|
CA290323184 rs573653158 |
55 | F>L | No |
Ensembl ClinGen |
|
|
CA398780387 rs1351627337 |
56 | Q>* | No |
gnomAD ClinGen |
|
|
rs7210156 VAR_044022 CA8526374 |
61 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 63 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8526373 rs758257845 |
63 | L>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 64 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748063679 CA398780268 |
65 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 65 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 66 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778722822 CA8526371 |
67 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA398780238 rs1380262273 |
67 | T>S | No |
gnomAD ClinGen |
|
|
rs1472825993 CA398780210 |
69 | Q>E | No |
TOPMed gnomAD ClinGen |
|
|
rs750554801 CA8526369 |
69 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA290323157 rs1045842305 |
69 | Q>L | No |
TOPMed gnomAD ClinGen |
|
|
CA398780204 rs1045842305 |
69 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 70 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398779489 rs1178189060 |
71 | H>L | No |
ClinGen gnomAD |
|
|
rs1359648743 CA398779496 |
71 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1470552333 CA398779454 |
73 | G>D | No |
ClinGen TOPMed |
|
|
CA8526344 rs765740178 |
73 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760097894 CA8526343 |
74 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 75 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8526342 rs753337257 |
75 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290321643 rs766611751 |
80 | I>M | No |
ClinGen Ensembl |
|
|
rs765821049 CA8526341 |
80 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA8526338 rs771647726 |
81 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs367883766 CA8526339 |
81 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8526340 rs367883766 |
81 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371240095 CA290321632 |
82 | D>N | No |
gnomAD ClinGen |
|
|
CA398779312 rs1306285368 |
83 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1306285368 CA398779313 |
83 | Y>N | No |
TOPMed gnomAD ClinGen |
|
|
rs761647745 CA8526337 |
84 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1052001311 CA290321623 |
84 | I>T | No |
Ensembl ClinGen |
|
|
rs1567682254 CA398779272 |
85 | H>Q | No |
ClinGen Ensembl |
|
|
CA8526335 rs768711064 |
86 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774054791 CA8526336 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs374929993 CA398779247 |
87 | F>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398779244 rs1395205002 |
88 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 90 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398779195 rs1304394051 |
91 | Q>H | No |
gnomAD ClinGen |
|
| TCGA novel | 92 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398779185 rs1460348510 |
92 | R>S | No |
ClinGen gnomAD |
|
|
rs370386866 CA8526332 |
93 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8526331 rs747079575 |
94 | L>H | No |
ExAC gnomAD ClinGen |
|
|
rs778032171 CA398779156 |
95 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs1182559579 CA398779151 |
95 | N>K | No |
gnomAD ClinGen |
|
|
CA398779154 rs1382977640 |
95 | N>S | No |
gnomAD ClinGen |
|
|
CA8526330 rs778032171 |
95 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753098821 CA8526327 |
101 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 102 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 103 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374049509 CA8526326 |
103 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 105 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398778792 rs1387886244 |
107 | Q>R | No |
TOPMed ClinGen |
|
|
rs200340108 CA8526307 |
111 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398778730 rs1170084994 |
112 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA8526306 rs780517847 |
114 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 115 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357312261 CA398778651 |
117 | A>G | No |
ClinGen gnomAD |
|
|
rs1236581522 CA398778625 |
119 | L>M | No |
gnomAD ClinGen |
|
|
CA8526305 TCGA novel rs756621447 |
120 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA8526303 rs369060210 |
121 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8526304 rs749944360 |
121 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA398778588 rs749944360 |
121 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA398778571 rs1322303806 |
122 | I>T | No |
gnomAD ClinGen |
|
|
CA8526299 rs762818252 |
123 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1286797505 CA398778545 |
124 | G>E | No |
gnomAD ClinGen |
|
|
rs775462909 CA8526298 |
125 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8526297 rs765259627 |
126 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398778483 rs1160384008 |
128 | R>T | No |
gnomAD ClinGen |
|
|
rs1473817882 CA398778470 |
129 | F>V | No |
ClinGen gnomAD |
|
|
rs1355712969 CA398778454 |
130 | G>V | No |
ClinGen TOPMed |
|
|
CA8526294 rs771983120 |
131 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs200754841 CA8526296 |
131 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA290321049 rs772933053 |
132 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772933053 CA8526293 |
132 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774510625 CA8526292 |
132 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs186905613 CA8526290 |
135 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780464546 CA8526289 |
136 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398778377 rs1230076451 |
137 | A>V | No |
ClinGen gnomAD |
|
|
rs372805713 CA8526288 |
139 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398778342 rs1274233834 |
141 | S>R | No |
gnomAD ClinGen |
|
|
rs201689032 CA8526287 |
142 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8526285 rs569897835 |
144 | V>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 146 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8526283 rs376528529 |
146 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 148 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296555776 CA398778250 |
149 | T>N | No |
TOPMed ClinGen |
|
|
rs768546962 CA290321014 |
150 | H>R | No |
ClinGen Ensembl |
|
|
rs1338659291 CA398778239 |
150 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA8526281 rs530141761 |
152 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with A8MV24
No regional properties for A8MV24
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A8MV24 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
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 |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAYLSECRLR | LEKGFILDGV | AVSTAARAYG | RSRPKLWSAI | PPYNAQQDYH | ARSYFQSHVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPLLRKTDQD | HGGTGRDGWI | VDYIHIFGQG | QRYLNRRNWA | GTGHSLQQVT | GHDHYNADLK |
| 130 | 140 | 150 | |||
| PIDGFNGRFG | YRRNTPALRQ | STSVFGEVTH | FPLF |