Q9BY19
Gene name |
MS4A8 (4SPAN4, MS4A8B) |
Protein name |
Membrane-spanning 4-domains subfamily A member 8 |
Names |
Four-span transmembrane protein 4, Membrane-spanning 4-domains subfamily A member 8B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83661 |
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 Q9BY19
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BY19-F1 | Predicted | AlphaFoldDB |
218 variants for Q9BY19
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM171898 CA380596556 rs1426906759 |
3 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM312950 CA380596564 rs1168380345 CA380596565 |
4 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1196400733 CA380596561 |
4 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 7 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324974041 CA380596590 |
9 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6025586 rs776863093 |
9 | P>L | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1324974041 CA380596591 |
9 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769797287 CA6025588 |
10 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 11 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230100836 CA380596606 |
12 | N>H | No |
ClinGen gnomAD |
|
|
rs1318788556 CA380596632 |
15 | L>F | No |
ClinGen TOPMed |
|
|
CA6025591 rs762932701 |
16 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6025592 rs770893882 |
19 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA380596660 rs1231408067 |
20 | H>P | No |
ClinGen TOPMed |
|
|
CA6025593 rs758758486 |
21 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380596670 rs1590951000 |
22 | G>S | No |
ClinGen Ensembl |
|
|
rs778208143 CA222782877 |
24 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590951007 CA380596695 |
26 | T>P | No |
ClinGen Ensembl |
|
|
CA222782884 rs764484076 |
27 | P>S | No |
ClinGen Ensembl |
|
|
CA380596745 rs1398774909 |
30 | M>I | No |
ClinGen TOPMed |
|
|
CA380596741 rs1267065688 |
30 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6025595 rs767109802 |
31 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6025596 rs183590907 |
33 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145052992 CA6025597 |
34 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380596829 rs1490066290 |
37 | P>A | No |
ClinGen gnomAD |
|
|
CA380596833 rs1365621729 |
37 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6025599 rs753395781 |
38 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA380596845 rs753395781 |
38 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA222782955 rs202135543 |
39 | S>N | No |
ClinGen Ensembl |
|
|
rs143047257 CA6025600 |
41 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143047257 CA380596888 |
41 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6025605 rs143555218 |
42 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 42 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6025606 rs748309290 |
43 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM929267 CA380596942 rs1225836566 |
45 | L>P | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs769987023 CA380596948 |
46 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6025607 rs769987023 |
46 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380596990 rs1221886351 |
49 | N>K | No |
ClinGen gnomAD |
|
|
rs1486982433 CA380597008 |
51 | P>S | No |
ClinGen gnomAD |
|
|
CA380597021 rs1275765118 |
52 | S>G | No |
ClinGen TOPMed |
|
|
CA6025608 COSM1215553 rs375232214 |
55 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448246623 CA380597086 |
56 | N>K | No |
ClinGen TOPMed |
|
|
COSM415520 rs148191741 CA6025610 |
57 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA380597120 rs1385808197 |
59 | G>A | No |
ClinGen gnomAD |
|
|
rs1443436430 CA380597124 |
60 | Q>* | No |
ClinGen gnomAD |
|
|
rs1164216920 CA380597141 |
61 | P>T | No |
ClinGen gnomAD |
|
|
CA6025611 rs774307302 |
63 | Q>R | No |
ClinGen ExAC |
|
|
CA6025612 rs759256994 |
68 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs775413798 CA6025615 |
73 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA380597292 rs1287966512 |
73 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764744158 CA6025637 |
74 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987829871 CA222784040 |
77 | I>M | No |
ClinGen TOPMed |
|
|
CA222784047 rs919792697 |
78 | I>N | No |
ClinGen Ensembl |
|
|
rs931152285 CA222784050 |
79 | I>T | No |
ClinGen TOPMed |
|
|
CA380598009 rs1480289436 |
80 | G>S | No |
ClinGen gnomAD |
|
|
CA222784061 rs17852124 |
83 | H>R | No |
ClinGen Ensembl |
|
|
CA6025639 rs200488492 |
84 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6025642 rs145301373 |
85 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264103818 CA380598122 |
86 | L>F | No |
ClinGen Ensembl |
|
|
CA380598128 rs1426650008 |
86 | L>P | No |
ClinGen gnomAD |
|
|
CA380598137 rs754004266 |
87 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6025644 rs754004266 |
87 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6025643 rs138969504 |
87 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6025646 rs142107924 |
89 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1213893118 CA380598194 |
90 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs976789781 CA222784111 |
90 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs572019233 CA6025647 COSM1676070 |
91 | A>V | central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA380598257 rs1590952163 |
93 | V>G | No |
ClinGen Ensembl |
|
|
VAR_053523 CA6025650 CA6025651 rs35956659 |
95 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1565051180 CA380598323 |
98 | Y>* | No |
ClinGen Ensembl |
|
|
rs1439385853 CA380598315 |
98 | Y>H | No |
ClinGen TOPMed |
|
|
rs1010275393 CA222784136 |
99 | L>M | No |
ClinGen gnomAD |
|
|
rs1217568795 CA380598332 |
99 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380598340 rs1464724792 |
100 | S>P | No |
ClinGen TOPMed |
|
|
CA380598358 rs1475968855 |
101 | I>V | No |
ClinGen gnomAD |
|
|
rs149636295 CA6025655 |
103 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM118038 rs144254483 CA6025656 |
104 | Y>* | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 104 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768046843 CA6025658 |
105 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365103071 CA380598432 |
106 | G>R | No |
ClinGen gnomAD |
|
|
rs1565051202 CA380598436 |
106 | G>V | No |
ClinGen Ensembl |
|
|
rs1403811905 CA380598444 |
107 | F>L | No |
ClinGen gnomAD |
|
|
CA380598480 rs1171652496 |
109 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762178932 CA222784159 |
110 | W>C | No |
ClinGen Ensembl |
|
|
CA6025659 rs775913216 |
110 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA380598485 rs1455560107 |
110 | W>R | No |
ClinGen TOPMed |
|
|
rs1345547587 CA380598503 |
111 | G>* | No |
ClinGen gnomAD |
|
|
CA380598511 rs1254917581 |
112 | G>S | No |
ClinGen TOPMed |
|
|
CA380598535 rs1437381598 |
113 | L>F | No |
ClinGen TOPMed |
|
|
rs1461702963 CA380598529 |
113 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1295255155 CA380598547 |
114 | W>* | No |
ClinGen gnomAD |
|
|
rs941234997 CA222784163 |
114 | W>G | No |
ClinGen TOPMed |
|
|
CA222785660 rs912007173 |
116 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1326146779 CA380599134 |
120 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140709117 CA6025688 |
123 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780966264 CA6025689 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6025690 rs752555528 |
125 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380599176 rs1225792659 |
127 | N>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 128 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380599191 rs1590953754 |
128 | Q>H | No |
ClinGen Ensembl |
|
|
rs1346691776 CA380599189 |
128 | Q>L | No |
ClinGen TOPMed |
|
|
CA222785684 rs752189816 |
129 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144721499 CA6025691 |
130 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777499721 CA6025692 |
133 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1249310065 CA380599219 |
133 | C>R | No |
ClinGen gnomAD |
|
|
rs777499721 CA380599221 |
133 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA380599227 rs1157303958 |
134 | L>Q | No |
ClinGen gnomAD |
|
|
CA6025708 rs752522397 |
136 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs756068264 CA6025709 |
138 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1290922278 CA380599367 |
138 | S>R | No |
ClinGen TOPMed |
|
|
CA380599386 rs1379625690 |
140 | G>S | No |
ClinGen gnomAD |
|
|
CA380599393 rs1395112307 |
140 | G>V | No |
ClinGen gnomAD |
|
|
rs867334851 CA222786447 |
141 | L>F | No |
ClinGen gnomAD |
|
|
rs1304535142 CA380599417 |
142 | N>K | No |
ClinGen gnomAD |
|
|
rs748203143 CA222786449 |
143 | I>V | No |
ClinGen Ensembl |
|
|
CA380599433 rs147472289 |
144 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6025711 rs147472289 |
144 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6025712 rs567451277 |
145 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs907259071 CA222786459 |
145 | S>N | No |
ClinGen TOPMed |
|
|
CA380599452 rs1329782008 |
146 | A>S | No |
ClinGen gnomAD |
|
|
rs1219801986 CA380599468 |
147 | I>M | No |
ClinGen TOPMed |
|
|
CA380599465 rs1271335826 |
147 | I>T | No |
ClinGen gnomAD |
|
|
rs1002964494 CA222786463 |
149 | S>F | No |
ClinGen TOPMed |
|
|
rs1565052881 CA380599505 |
151 | V>F | No |
ClinGen Ensembl |
|
|
rs1002389014 CA222786467 |
152 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA380599517 rs1002389014 |
152 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA380599520 rs1438033850 |
153 | V>I | No |
ClinGen TOPMed |
|
|
CA6025715 rs757779271 |
154 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs745414264 CA6025714 |
154 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA222786472 rs960670603 |
155 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1327796421 CA380599568 |
157 | I>T | No |
ClinGen TOPMed |
|
|
CA380599588 rs1463831896 |
159 | D>G | No |
ClinGen TOPMed |
|
|
rs530030122 CA6025717 |
159 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530030122 CA380599584 |
159 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs987737731 CA222786495 |
163 | P>A | No |
ClinGen gnomAD |
|
|
rs199567916 CA6025719 |
163 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182001591 CA222786500 |
164 | H>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA380599653 rs1423605597 |
165 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6025720 rs773486448 |
166 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1384299773 CA380599686 |
167 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA380599718 rs1181363672 |
169 | P>L | No |
ClinGen TOPMed |
|
|
rs780581740 CA6025724 |
170 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201478139 CA6025722 |
170 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6025723 rs201478139 |
170 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244303528 CA380599743 |
172 | Y>N | No |
ClinGen gnomAD |
|
|
rs139677781 CA222786522 |
173 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 173 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139677781 CA380599757 |
173 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764071842 CA6025728 |
175 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6025726 rs775637715 |
175 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6025727 rs775637715 |
175 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6025729 rs753655631 |
177 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 177 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6025730 rs757007792 |
177 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs752227539 CA6025773 |
179 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6025775 rs371762860 |
180 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380600557 rs1343383898 COSM543976 |
180 | P>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs371762860 CA6025774 |
180 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6025777 COSM689400 rs758725009 |
183 | A>V | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 185 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774047809 CA222789554 |
185 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs560863829 CA6025781 |
187 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6025783 rs769742177 |
188 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs762657573 CA6025785 |
190 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1290487923 CA380600750 |
191 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147400889 CA6025786 |
195 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA222789604 rs267603057 |
196 | F>L | No |
ClinGen Ensembl |
|
|
CA380600846 rs1294756554 |
197 | G>D | No |
ClinGen gnomAD |
|
|
CA222789610 rs35356499 |
198 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6025788 COSM929276 rs149745158 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 200 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745512206 CA222789614 |
200 | C>S | No |
ClinGen Ensembl |
|
|
rs200663288 CA6025789 |
200 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6025792 rs201465289 |
201 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6025791 rs201465289 |
201 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA222789618 rs201465289 |
201 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380600915 rs1372402116 |
201 | A>V | No |
ClinGen TOPMed |
|
|
rs1219833252 CA380600967 |
204 | H>D | No |
ClinGen gnomAD |
|
|
rs1386685992 CA380600991 |
205 | F>L | No |
ClinGen Ensembl |
|
|
CA6025793 rs750886877 |
205 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs758819733 CA6025794 |
210 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1465733845 CA380601072 |
210 | V>F | No |
ClinGen gnomAD |
|
|
CA6025797 rs755242221 |
212 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs751837079 CA6025796 |
212 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781342837 CA6025798 |
213 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA380601164 TCGA novel rs756117147 |
215 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs1178196727 CA380601171 |
216 | N>D | No |
ClinGen gnomAD |
|
|
rs777581334 CA6025801 |
216 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207504383 CA380601240 |
217 | V>L | No |
ClinGen gnomAD |
|
|
rs1207504383 CA380601238 |
217 | V>M | No |
ClinGen gnomAD |
|
|
rs776252839 CA6025830 |
218 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424790781 CA380601278 |
219 | V>I | No |
ClinGen Ensembl |
|
|
rs761178094 CA6025831 |
220 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317267346 CA380601345 |
223 | N>D | No |
ClinGen TOPMed |
|
|
CA6025833 rs146666911 |
225 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6025834 rs759903573 |
228 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs767924404 CA6025835 |
229 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA380601455 rs1245425172 |
230 | V>M | No |
ClinGen gnomAD |
|
|
rs1411183112 CA380601475 |
232 | T>S | No |
ClinGen gnomAD |
|
|
rs1289846429 CA380601485 |
233 | P>L | No |
ClinGen gnomAD |
|
|
CA380601482 rs1369574290 |
233 | P>S | No |
ClinGen gnomAD |
|
|
CA6025838 rs761009887 |
234 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6025839 rs764177475 |
235 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA222789798 rs960118641 |
235 | P>S | No |
ClinGen TOPMed |
|
|
rs375920027 CA6025841 |
237 | T>I | No |
ClinGen ESP ExAC |
|
|
CA6025842 rs778923717 |
240 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA380601546 rs750444624 |
241 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6025843 rs750444624 |
241 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1275554276 CA380601556 |
242 | Y>* | No |
ClinGen gnomAD |
No associated diseases with Q9BY19
No regional properties for Q9BY19
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BY19 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNSMTSAVPV | ANSVLVVAPH | NGYPVTPGIM | SHVPLYPNSQ | PQVHLVPGNP | PSLVSNVNGQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVQKALKEGK | TLGAIQIIIG | LAHIGLGSIM | ATVLVGEYLS | ISFYGGFPFW | GGLWFIISGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSVAAENQPY | SYCLLSGSLG | LNIVSAICSA | VGVILFITDL | SIPHPYAYPD | YYPYAWGVNP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GMAISGVLLV | FCLLEFGIAC | ASSHFGCQLV | CCQSSNVSVI | YPNIYAANPV | ITPEPVTSPP |
| SYSSEIQANK |