Q4VXA5
Gene name |
KHDC1 |
Protein name |
KH homology domain-containing protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80759 |
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 Q4VXA5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q4VXA5-F1 | Predicted | AlphaFoldDB |
224 variants for Q4VXA5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1229798693 CA364698652 |
2 | L>V | No |
ClinGen gnomAD |
|
|
rs1291795324 CA364698543 |
9 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1414612160 CA364698535 |
9 | F>S | No |
ClinGen gnomAD |
|
|
rs1291795324 CA364698541 |
9 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs928686184 CA140915203 |
10 | R>* | No |
ClinGen gnomAD |
|
|
rs1562263204 CA364698517 |
10 | R>L | No |
ClinGen Ensembl |
|
|
rs1452275421 CA364698505 |
11 | V>A | No |
ClinGen gnomAD |
|
|
rs1344630209 CA364698481 |
13 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA364698479 rs1344630209 |
13 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA140915202 rs981481837 |
15 | I>T | No |
ClinGen TOPMed |
|
|
rs1332436720 CA364698431 |
16 | E>Q | No |
ClinGen TOPMed |
|
|
CA364698411 rs1215264684 |
17 | T>A | No |
ClinGen TOPMed |
|
|
CA140915196 rs778488974 |
17 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 18 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364698353 rs1175667283 |
21 | Y>* | No |
ClinGen TOPMed |
|
|
CA3887691 rs16883573 |
21 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364698355 rs16883573 |
21 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364698344 rs1186945372 |
23 | V>I | No |
ClinGen gnomAD |
|
|
rs1184650914 CA364698319 |
26 | F>L | No |
ClinGen gnomAD |
|
|
CA140915185 rs868770597 |
30 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1260763132 CA364698287 |
31 | P>S | No |
ClinGen gnomAD |
|
|
rs16883571 CA3887690 |
34 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA140915183 rs547364947 |
35 | T>I | No |
ClinGen gnomAD |
|
|
rs547364947 CA364698259 |
35 | T>N | No |
ClinGen gnomAD |
|
|
rs781408044 CA3887688 |
37 | A>T | No |
ClinGen ExAC |
|
|
rs1001451392 CA140915162 CA364698219 |
42 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA364698206 rs1380980355 |
44 | V>A | No |
ClinGen gnomAD |
|
|
CA364698208 rs768630898 |
44 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768630898 CA3887687 |
44 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374955417 CA364698179 |
48 | L>F | No |
ClinGen TOPMed |
|
|
CA364698169 rs1392553471 |
49 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA140915159 rs868362643 |
51 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA364698155 rs868362643 |
51 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs957280686 CA140915158 |
53 | N>S | No |
ClinGen Ensembl |
|
|
CA364698134 rs1168097103 |
55 | E>Q | No |
ClinGen gnomAD |
|
|
CA364694181 rs1170347160 |
56 | R>T | No |
ClinGen gnomAD |
|
|
rs890769600 CA140903477 |
57 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971734882 CA140903452 |
59 | R>G | No |
ClinGen gnomAD |
|
|
rs780083401 CA3887667 |
61 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774391260 CA364694006 |
62 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310718439 CA364693949 |
65 | C>* | No |
ClinGen gnomAD |
|
|
CA3887665 rs528957645 |
66 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779414355 CA3887664 |
66 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3887663 rs757579049 |
69 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887638 rs766265823 |
70 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300247596 CA364692617 |
70 | S>P | No |
ClinGen TOPMed |
|
|
CA140913660 rs893627537 |
73 | S>N | No |
ClinGen Ensembl |
|
|
CA364692585 rs1333812665 |
74 | M>I | No |
ClinGen gnomAD |
|
|
rs761526433 CA3887634 |
74 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582547895 CA364692590 |
74 | M>V | No |
ClinGen Ensembl |
|
|
rs373331186 CA3887633 |
75 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767717346 CA140913626 |
76 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs767717346 CA3887632 |
76 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1007360498 CA140913630 |
76 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3887630 rs774462256 |
78 | T>M | Variant assessed as Somatic; 0.0002319 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364692550 rs1231140579 |
80 | A>T | No |
ClinGen Ensembl |
|
|
rs1024166061 CA140913612 |
80 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1413472857 CA364692544 |
81 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3887628 rs749826107 |
82 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887626 rs201416149 |
84 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3887625 rs376978395 |
85 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364692511 rs1562243606 |
86 | W>R | No |
ClinGen Ensembl |
|
|
CA3887623 rs369171739 |
86 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746548203 CA364692501 |
87 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs746548203 CA3887622 |
87 | W>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548245687 CA140913564 |
88 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548245687 CA3887621 |
88 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364692480 rs200533249 |
91 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3887619 rs200533249 |
91 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3887618 rs754860132 |
91 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887617 rs757105696 |
92 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753630007 CA364692454 |
94 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 94 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376745877 CA3887613 |
97 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3887614 rs759735769 |
97 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766512521 CA364692429 |
98 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766512521 CA3887612 |
98 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490187990 CA364692431 |
98 | V>L | No |
ClinGen gnomAD |
|
|
rs867886156 CA140913511 |
101 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1168449449 CA364692412 |
101 | M>L | No |
ClinGen gnomAD |
|
|
CA3887610 rs550735209 |
102 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3887609 rs770418612 |
103 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1247571163 CA364692386 |
104 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3887608 rs762308671 |
105 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364692355 rs1273675337 |
108 | L>P | No |
ClinGen gnomAD |
|
| rs372154414 | 110 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777111995 CA3887606 |
110 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1205733250 CA364692344 |
110 | F>V | No |
ClinGen gnomAD |
|
|
CA3887604 rs746702488 |
111 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA364692315 rs777623338 |
113 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777623338 CA3887579 |
113 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3887578 rs755951762 |
114 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752422077 CA364692291 |
116 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761438108 CA140913232 |
116 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 116 | Y>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364692295 rs1582547378 |
116 | Y>S | No |
ClinGen Ensembl |
|
|
rs780363800 CA3887576 |
117 | L>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3736425 CA3887574 rs202065785 |
118 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs202065785 CA3887575 |
118 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765437338 CA3887573 |
118 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA140913214 rs374110823 |
120 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs754408108 CA3887571 |
123 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3887572 rs761914474 |
123 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3887570 rs764492118 |
124 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761165148 CA3887569 |
125 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775691188 CA3887568 |
130 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1562243398 CA364692201 |
131 | E>* | No |
ClinGen Ensembl |
|
|
rs767252028 CA3887567 CA364692197 |
131 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3887566 rs369480492 |
133 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3887564 rs150130213 |
137 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA140913131 rs150130213 |
137 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364692155 rs1294555769 |
138 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770433424 CA3887563 |
139 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773192554 CA3887561 |
141 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773192554 CA3887562 |
141 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372741660 CA3887559 |
141 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3887560 rs372741660 |
141 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780872192 CA3887558 |
142 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364692125 rs1210159353 |
143 | T>I | No |
ClinGen gnomAD |
|
|
rs754762273 CA364692117 |
145 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754762273 CA3887557 |
145 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887554 rs757467678 |
146 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887555 rs779214439 |
146 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3669645 CA364692110 rs757467678 |
146 | G>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA140913049 rs925621462 |
148 | H>Q | No |
ClinGen TOPMed |
|
|
rs1315359842 CA364692094 |
149 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1364482608 CA364692067 |
153 | W>R | No |
ClinGen gnomAD |
|
|
rs369158621 CA3887552 |
153 | W>S | No |
ClinGen ESP ExAC |
|
|
rs569098928 CA3887551 |
155 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3887550 rs572106838 |
157 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3887548 rs753203314 |
159 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs181290286 CA3887547 |
162 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3887544 rs766005212 |
167 | Y>C | No |
ClinGen ExAC |
|
|
CA3887543 rs762518328 |
170 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768333060 CA3887542 |
171 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA140912974 COSM743173 rs199949364 |
171 | R>P | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3887541 rs199949364 |
171 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1582547115 CA364691941 |
172 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 172 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3887526 rs766068547 |
175 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1483424596 CA364691912 |
175 | M>L | No |
ClinGen TOPMed |
|
|
CA3887525 rs762613619 |
176 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375224084 CA3887524 |
176 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3887523 rs764657829 |
178 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887522 rs761326459 |
178 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887520 rs768707302 |
180 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887521 rs768707302 |
180 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364691882 rs1418927716 |
180 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1418927716 CA364691883 |
180 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1182897023 CA364691880 |
181 | S>R | No |
ClinGen gnomAD |
|
|
CA364691873 rs1371797987 |
181 | S>R | No |
ClinGen TOPMed |
|
|
CA364691876 rs1582546824 |
181 | S>T | No |
ClinGen Ensembl |
|
|
CA364691859 rs1409918530 |
183 | P>L | No |
ClinGen TOPMed |
|
|
CA364691842 rs887483060 |
186 | N>K | No |
ClinGen TOPMed |
|
|
rs1056613087 CA140912676 |
186 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199979331 CA364691840 |
187 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199979331 CA3887517 |
187 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3887516 rs775405936 |
189 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3887514 rs563152950 |
190 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3887515 rs368269816 |
190 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3887513 rs777989124 |
191 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887512 rs769778458 |
192 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3887510 rs781617538 |
193 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3887511 rs201194392 |
193 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs962762004 CA140912594 |
194 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA364691796 rs1325917283 |
194 | S>R | No |
ClinGen gnomAD |
|
|
rs200762693 CA3887508 |
195 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200762693 CA364691795 |
195 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1448651628 CA364691785 |
196 | P>L | No |
ClinGen TOPMed |
|
|
rs985482455 CA140912584 |
197 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs985482455 CA364691780 |
197 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 197 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3887507 rs780425911 |
199 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242477557 CA364691767 |
199 | T>I | No |
ClinGen gnomAD |
|
|
rs750055770 CA3887506 |
200 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3887505 rs750055770 |
200 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764925786 CA3887504 |
201 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 201 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364691729 rs1385811767 |
206 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs905343170 CA140912552 |
207 | R>G | No |
ClinGen Ensembl |
|
|
rs1319406218 CA364691724 |
207 | R>K | No |
ClinGen gnomAD |
|
|
CA3887502 rs753354797 |
207 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171459251 CA364691720 |
208 | I>V | No |
ClinGen TOPMed |
|
|
rs764172574 CA364691713 |
209 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364691711 rs1160697933 |
209 | S>N | No |
ClinGen gnomAD |
|
|
rs764172574 CA3887501 |
209 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887500 rs148053198 |
211 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201705217 CA140912547 |
211 | T>I | No |
ClinGen 1000Genomes |
|
|
CA364691695 rs367849614 |
212 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367849614 CA3887498 |
212 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1433374915 CA364691686 |
213 | C>F | No |
ClinGen TOPMed |
|
|
rs1462664535 CA364691690 |
213 | C>R | No |
ClinGen gnomAD |
|
|
CA364691678 rs1246286601 |
214 | L>R | No |
ClinGen gnomAD |
|
|
rs377447679 CA3887497 |
215 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1208300634 CA364691676 |
215 | S>R | No |
ClinGen gnomAD |
|
|
CA3887495 rs373674170 |
216 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 216 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355551928 CA364691637 |
221 | P>H | No |
ClinGen gnomAD |
|
|
rs748218067 CA3887494 |
221 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228448344 CA364691613 |
224 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955895713 CA140912445 |
226 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3887491 rs780480838 |
227 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887490 rs780480838 |
227 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3887489 rs377743187 |
228 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186941657 CA3887487 |
229 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186941657 CA364691585 |
229 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1390476906 CA364691563 |
232 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA140912428 rs778100429 |
233 | S>N | No |
ClinGen Ensembl |
|
|
CA3887485 rs753386664 |
234 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1467142886 CA364691545 |
235 | L>P | No |
ClinGen TOPMed |
|
|
rs1388366304 CA567683304 |
236 | Y>* | No |
ClinGen gnomAD |
|
|
rs538554497 CA3887484 |
237 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538554497 CA3887483 |
237 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q4VXA5
7 regional properties for Q4VXA5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PKD domain | 523 - 592 | IPR000601 |
| domain | MANSC domain | 49 - 127 | IPR013980 |
| domain | PKD/Chitinase domain | 312 - 401 | IPR022409-1 |
| domain | PKD/Chitinase domain | 409 - 498 | IPR022409-2 |
| domain | PKD/Chitinase domain | 504 - 594 | IPR022409-3 |
| domain | PKD/Chitinase domain | 600 - 688 | IPR022409-4 |
| domain | PKD/Chitinase domain | 694 - 785 | IPR022409-5 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSAFQRLFR | VLFVIETVSE | YGVLIFIYGW | PFLQTLAMLL | IGTVSFHLWI | RRNRERNSRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKTRCRSKRS | EQSMDMGTSA | LSKKPWWTLP | QNFHAPMVFH | MEEDQEELIF | GHGDTYLRCI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVHSHTLIQL | ESWFTATGQT | RVTVVGPHRA | RQWLLHMFCC | VGSQDSYHHA | RGLEMLERVR |
| 190 | 200 | 210 | 220 | 230 | |
| SQPLTNDDLV | TSISVPPYTG | DLSLAPRISG | TVCLSVPQPS | PYQVIGCSGF | HLSSLYP |