Q9Y6I9
Gene name |
TEX264 |
Protein name |
Testis-expressed protein 264 |
Names |
Putative secreted protein Zsig11 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51368 |
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
3 structures for Q9Y6I9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7VEC | X-ray | 300 A | M/N/O/P/Q/R/S/T/U/V/X | 271-278 | PDB |
| 7VED | X-ray | 202 A | A/B | 271-281 | PDB |
| AF-Q9Y6I9-F1 | Predicted | AlphaFoldDB |
261 variants for Q9Y6I9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM3427729 rs371048238 CA74707448 |
2 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2424616 rs371048238 |
2 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1577488848 CA353039376 |
3 | D>A | No |
ClinGen Ensembl |
|
|
rs1429628228 CA353039375 |
3 | D>Y | No |
ClinGen gnomAD |
|
|
CA353039390 rs1487622497 |
5 | L>R | No |
ClinGen TOPMed |
|
|
rs1302055289 CA353039396 |
7 | L>V | No |
ClinGen gnomAD |
|
|
rs1286823097 CA353039406 |
8 | G>D | No |
ClinGen gnomAD |
|
|
CA2424621 rs147968046 |
10 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1216619529 CA353039419 |
11 | G>R | No |
ClinGen TOPMed |
|
|
CA353039426 rs1215494141 |
12 | G>S | No |
ClinGen gnomAD |
|
|
rs1559668735 CA353039435 |
14 | T>P | No |
ClinGen Ensembl |
|
|
rs141543510 CA74707557 |
15 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs1577489019 CA353039451 |
16 | L>F | No |
ClinGen Ensembl |
|
|
rs1399195733 CA353039464 |
19 | L>V | No |
ClinGen TOPMed |
|
|
CA2424623 rs375351243 |
20 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353039497 rs1466054590 |
25 | A>T | No |
ClinGen TOPMed |
|
|
CA2424627 rs368266955 |
26 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353039505 rs368266955 |
26 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751516569 CA2424626 |
26 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353039509 rs1577489135 |
27 | Y>D | No |
ClinGen Ensembl |
|
|
CA2424630 rs151059647 |
30 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200626698 CA353039551 |
34 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424631 rs200626698 |
34 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769193290 CA2424633 |
35 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749586556 CA2424632 |
35 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs770504011 CA353039561 |
36 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs770504011 CA2424636 |
36 | V>G | No |
ClinGen ExAC TOPMed |
|
|
rs779513874 CA2424635 |
36 | V>L | No |
ClinGen ExAC |
|
|
rs779513874 CA2424634 |
36 | V>M | No |
ClinGen ExAC |
|
|
rs1328811463 CA353039570 |
38 | A>T | No |
ClinGen gnomAD |
|
|
rs1577489286 CA353039584 |
40 | S>A | No |
ClinGen Ensembl |
|
|
rs199677902 CA353039589 |
41 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 41 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353039591 rs1228237936 |
41 | P>R | No |
ClinGen gnomAD |
|
|
CA2424638 rs199677902 |
41 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1266614723 CA353039594 |
42 | P>A | No |
ClinGen gnomAD |
|
|
rs963054402 CA74707746 |
44 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs570400367 CA2424641 |
44 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353039609 rs570400367 |
44 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74561651 CA2424642 |
45 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233425655 CA353039617 |
46 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2424644 rs761751528 |
47 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA74707801 rs796554980 |
49 | A>T | No |
ClinGen TOPMed |
|
|
rs1461640829 CA353039642 |
50 | Y>S | No |
ClinGen gnomAD |
|
|
CA2424647 rs756259318 |
52 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2424648 rs766489140 |
53 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755357788 CA2424650 |
54 | M>T | No |
ClinGen ExAC TOPMed |
|
|
CA2424649 rs754113085 |
54 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1271935148 CA353039678 |
55 | G>E | No |
ClinGen gnomAD |
|
|
CA2424651 rs779429677 |
55 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2424652 rs748610886 |
57 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353039696 rs1577489518 |
58 | G>C | No |
ClinGen Ensembl |
|
|
rs778381727 CA2424654 |
62 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424653 rs201059799 |
62 | R>W | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1234156170 CA353039725 |
63 | L>F | No |
ClinGen gnomAD |
|
|
CA353039742 rs1265132441 |
65 | T>I | No |
ClinGen gnomAD |
|
|
rs745345314 CA2424656 |
66 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2424657 rs751449965 |
67 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424658 rs751449965 |
67 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424659 rs768382094 |
68 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768382094 CA353039757 |
68 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774118333 CA2424660 |
69 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs138563355 CA2424663 |
73 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760622582 CA2424664 |
75 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371669346 CA2424665 |
75 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74708014 rs371669346 |
75 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375006668 CA353039812 |
77 | I>V | No |
ClinGen gnomAD |
|
|
CA353039819 rs780205946 |
78 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2424668 rs780205946 |
78 | A>T | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 79 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758880076 CA2424670 |
80 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA353039840 rs1178987730 |
81 | Y>C | No |
ClinGen TOPMed |
|
|
rs778091014 CA2424671 |
83 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747579083 CA2424672 |
84 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353039859 rs1237735013 |
84 | P>T | No |
ClinGen TOPMed |
|
|
CA2424673 rs755508970 |
85 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs555508141 CA353039874 |
86 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555508141 CA2424674 |
86 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353039872 rs1338982079 |
86 | M>V | No |
ClinGen gnomAD |
|
|
CA74679084 rs946966866 |
89 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1305707677 CA353041383 |
91 | K>Q | No |
ClinGen gnomAD |
|
|
CA353041418 rs1348523007 |
93 | R>* | No |
ClinGen gnomAD |
|
|
CA353041421 rs1232360133 |
93 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs558942440 CA74679092 |
94 | C>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs764520358 CA2424689 |
95 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205479953 CA353041444 |
95 | A>V | No |
ClinGen gnomAD |
|
|
COSM1424290 rs1463264821 CA353041447 |
96 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA353041472 rs1195017853 |
98 | S>N | No |
ClinGen gnomAD |
|
|
rs757769424 CA2424691 |
99 | I>L | No |
ClinGen ExAC |
|
|
rs886519784 CA74679138 |
103 | G>D | No |
ClinGen Ensembl |
|
|
CA2424692 rs781613518 |
103 | G>R | No |
ClinGen ExAC |
|
|
CA353041560 COSM1485354 rs1395096275 |
104 | E>D | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753312901 CA2424693 |
106 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1259497973 CA353041614 |
108 | S>C | No |
ClinGen gnomAD |
|
|
CA353041654 rs1455714535 |
112 | I>V | No |
ClinGen gnomAD |
|
|
CA74679174 rs1056595614 |
113 | D>G | No |
ClinGen TOPMed |
|
|
CA2424696 rs747830496 |
113 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1312021674 CA353041717 |
116 | Q>R | No |
ClinGen TOPMed |
|
|
CA353041741 rs1328011009 |
118 | F>L | No |
ClinGen gnomAD |
|
|
rs1448212281 CA353041758 |
121 | K>E | No |
ClinGen TOPMed |
|
|
CA74679179 rs895196115 |
121 | K>N | No |
ClinGen TOPMed |
|
|
CA2424698 rs372279086 |
122 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1056666177 CA74679196 |
123 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA74679221 rs896404201 |
124 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1559675123 CA353041782 |
125 | F>L | No |
ClinGen Ensembl |
|
|
rs1267244615 CA353041786 |
125 | F>L | No |
ClinGen gnomAD |
|
|
CA353041793 rs1326653501 |
126 | P>L | No |
ClinGen gnomAD |
|
|
CA2424701 rs776753541 |
127 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424702 rs759636482 |
127 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2424704 rs199663854 |
128 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187547568 CA353041815 |
130 | H>R | No |
ClinGen gnomAD |
|
|
rs763246169 CA2424705 |
131 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763246169 CA2424706 |
131 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA74679269 rs199694207 |
132 | V>M | No |
ClinGen Ensembl |
|
|
CA353041839 rs1411604828 |
134 | A>V | No |
ClinGen gnomAD |
|
|
CA2424708 rs138150641 |
135 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1452967456 CA353041845 |
136 | F>I | No |
ClinGen TOPMed |
|
|
rs1267680230 CA353041856 |
137 | P>R | No |
ClinGen TOPMed |
|
|
CA2424709 rs767989437 |
139 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767989437 CA353041867 |
139 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2424710 rs750951980 |
140 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030749586 CA74679322 |
143 | S>Y | No |
ClinGen Ensembl |
|
|
rs1288635204 CA353041896 |
144 | I>F | No |
ClinGen TOPMed |
|
|
CA353041907 rs1348348106 |
145 | W>* | No |
ClinGen gnomAD |
|
|
CA353041902 rs1236244898 |
145 | W>R | No |
ClinGen TOPMed |
|
|
CA2424713 rs752292198 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777358599 CA2424715 |
148 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs758059920 CA2424714 |
148 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs371808148 CA2424716 |
149 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2424717 rs770650548 |
149 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781232080 CA2424718 |
150 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs745803321 CA2424719 |
150 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745803321 CA353041931 |
150 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769934796 CA2424720 |
151 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs912009143 CA74679380 |
152 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353041944 rs1162784919 |
153 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2424721 rs775697837 |
157 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424723 rs768891984 |
159 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA353041986 rs1368605668 |
159 | I>V | No |
ClinGen gnomAD |
|
|
CA2424749 rs761097253 |
162 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2424748 rs773556748 |
162 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2424750 rs766844593 |
164 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1281316019 CA353043138 |
165 | C>R | No |
ClinGen gnomAD |
|
|
CA353043144 rs1173041240 |
165 | C>W | No |
ClinGen gnomAD |
|
|
rs762481142 CA2424752 |
169 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs762481142 CA353043166 |
169 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2424751 rs200150485 |
169 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs948580613 CA74689195 |
174 | Q>E | No |
ClinGen TOPMed |
|
|
rs371777255 CA74689231 |
177 | Q>H | No |
ClinGen Ensembl |
|
|
rs1006029295 CA74689221 |
177 | Q>R | No |
ClinGen Ensembl |
|
|
CA2424755 rs756953605 |
180 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371011006 CA2424758 |
186 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2424757 COSM191105 rs148617571 |
186 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2424760 rs749215563 |
187 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2424759 rs779992812 |
187 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs755019035 CA2424761 |
190 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs748478449 CA74689268 |
191 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2424762 rs778874112 |
191 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs778874112 CA353043335 |
191 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1402945031 CA353043375 |
194 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2424763 rs748319268 |
195 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1024889737 CA74689290 |
197 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 203 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2424765 rs753054411 |
203 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353043517 COSM3427730 rs1412349346 |
203 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs969044528 CA74689323 |
205 | L>H | No |
ClinGen Ensembl |
|
|
CA353043571 rs1405482670 |
206 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322297814 CA353043622 |
208 | A>V | No |
ClinGen gnomAD |
|
|
rs747356480 CA2424767 |
209 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2424768 rs771311925 |
210 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2424772 rs773727438 |
216 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74692403 rs773119646 |
218 | A>T | No |
ClinGen Ensembl |
|
|
CA74692412 rs1021804956 |
220 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1409327077 CA353045140 |
220 | T>R | No |
ClinGen TOPMed |
|
|
rs1368728208 CA353045152 |
221 | M>V | No |
ClinGen TOPMed |
|
|
CA353045213 rs1186344782 |
223 | D>N | No |
ClinGen gnomAD |
|
|
rs370467260 CA74692423 |
224 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2424790 rs370467260 |
224 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366333185 CA353045233 |
224 | T>P | No |
ClinGen gnomAD |
|
|
rs1471674584 CA353045269 |
225 | S>T | No |
ClinGen TOPMed |
|
|
rs1168668889 CA353045312 |
228 | S>R | No |
ClinGen gnomAD |
|
|
rs1429611161 CA353045371 |
231 | V>G | No |
ClinGen gnomAD |
|
|
CA2424791 rs746307848 |
231 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs374502236 CA2424792 |
232 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1396849792 CA353045403 |
235 | S>G | No |
ClinGen gnomAD |
|
|
rs772933628 CA2424796 |
236 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424795 rs771738706 |
236 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298403063 CA353045488 |
239 | S>L | No |
ClinGen gnomAD |
|
|
rs753571468 CA2424799 |
240 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs760417570 CA2424797 |
240 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs760417570 CA2424798 |
240 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752658008 CA2424802 |
245 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74692504 rs375133563 |
245 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA353045599 rs1280674115 |
247 | A>V | No |
ClinGen TOPMed |
|
|
rs956868003 CA74692513 |
248 | S>I | No |
ClinGen Ensembl |
|
|
rs1202744128 CA353045646 |
250 | R>C | No |
ClinGen gnomAD |
|
|
rs369579500 CA2424804 |
250 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559686636 CA353045680 |
252 | W>* | No |
ClinGen Ensembl |
|
|
CA74692545 CA2424806 rs200027537 |
252 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA353045707 rs1577542707 |
253 | D>G | No |
ClinGen Ensembl |
|
|
CA74692558 rs200798093 |
255 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1424291 CA353045747 rs200798093 |
255 | G>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs912780799 CA74692564 |
255 | G>V | No |
ClinGen Ensembl |
|
|
rs1197570561 CA353045800 |
257 | T>I | No |
ClinGen gnomAD |
|
|
rs1466906932 CA353045791 |
257 | T>S | No |
ClinGen gnomAD |
|
|
rs756522578 CA2424809 |
258 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756522578 CA74692585 |
258 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780667450 CA2424810 |
258 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756522578 CA353045804 |
258 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369013696 CA353045831 CA2424814 |
259 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375977287 CA2424812 |
259 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2424815 rs770460422 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA74692640 rs919904083 |
261 | H>Q | No |
ClinGen gnomAD |
|
|
rs776397239 CA2424816 |
262 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs555183400 CA2424818 CA353045909 |
264 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353045939 rs1253969226 |
267 | G>S | No |
ClinGen gnomAD |
|
|
CA2424820 rs762861208 |
270 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA353045997 rs1449106909 |
271 | S>C | No |
ClinGen TOPMed |
|
|
CA2424821 rs764083278 |
272 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764083278 CA353046005 |
272 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs367741404 CA2424822 |
273 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757405334 CA2424823 |
275 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA74692721 rs1015059122 |
275 | E>G | No |
ClinGen TOPMed |
|
|
CA74692728 rs878921381 |
276 | L>R | No |
ClinGen Ensembl |
|
|
CA2424824 rs767585708 |
277 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA353046106 rs1270179741 |
280 | G>S | No |
ClinGen gnomAD |
|
|
rs938455567 CA353046115 |
281 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs938455567 CA74692741 |
281 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780579663 CA2424827 |
282 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2424826 rs756366149 |
282 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1577543082 CA353046142 |
283 | P>S | No |
ClinGen Ensembl |
|
|
rs749729109 CA2424828 |
285 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA353046173 rs1057076234 |
286 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2424830 rs779605686 |
288 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424829 rs755538682 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577543131 CA353046211 |
290 | D>G | No |
ClinGen Ensembl |
|
|
CA353046225 rs746480852 |
291 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2424831 rs746480852 |
291 | P>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_061718 rs11553574 CA2424832 |
292 | G>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1559686938 CA353046261 |
294 | E>D | No |
ClinGen Ensembl |
|
|
CA353046254 rs1228752835 |
294 | E>K | No |
ClinGen gnomAD |
|
|
CA2424834 rs776110618 |
295 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769490279 CA2424836 |
297 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762773045 CA2424838 |
298 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774292309 CA2424841 |
299 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2424840 rs774292309 |
299 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74692830 rs904180792 |
300 | K>R | No |
ClinGen Ensembl |
|
|
CA2424843 rs767638608 |
302 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs61737032 CA353046352 |
302 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61737032 CA2424844 |
302 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1167009061 CA353046357 |
303 | W>* | No |
ClinGen gnomAD |
|
|
rs760939105 CA2424845 |
304 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457363076 CA353046384 |
305 | P>S | No |
ClinGen gnomAD |
|
|
rs1372292240 CA353046400 COSM1133013 |
307 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2424848 rs565332036 |
308 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754224540 CA2424847 |
308 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775057028 CA2424850 |
311 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs532507096 CA2424852 |
313 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q9Y6I9
No regional properties for Q9Y6I9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y6I9 | |||
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome membrane | The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| 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. |
| 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. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| replication fork | The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein-DNA covalent cross-linking repair | The removal of covalent cross-link between DNA and a protein. |
| reticulophagy | The selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDLLLLGLI | GGLTLLLLLT | LLAFAGYSGL | LAGVEVSAGS | PPIRNVTVAY | KFHMGLYGET |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRLFTESCSI | SPKLRSIAVY | YDNPHMVPPD | KCRCAVGSIL | SEGEESPSPE | LIDLYQKFGF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVFSFPAPSH | VVTATFPYTT | ILSIWLATRR | VHPALDTYIK | ERKLCAYPRL | EIYQEDQIHF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MCPLARQGDF | YVPEMKETEW | KWRGLVEAID | TQVDGTGADT | MSDTSSVSLE | VSPGSRETSA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ATLSPGASSR | GWDDGDTRSE | HSYSESGASG | SSFEELDLEG | EGPLGESRLD | PGTEPLGTTK |
| 310 | |||||
| WLWEPTAPEK | GKE |