Q5T6X4
Gene name |
FAM162B (C6orf189) |
Protein name |
Protein FAM162B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221303 |
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 Q5T6X4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T6X4-F1 | Predicted | AlphaFoldDB |
166 variants for Q5T6X4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA365417844 rs1428710557 |
2 | L>V | No |
ClinGen TOPMed |
|
|
rs770335688 CA365417818 |
4 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395510963 CA365417820 |
4 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365417824 rs1395510963 |
4 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770335688 CA3972255 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145950712 rs558845697 |
6 | G>E | No |
ClinGen gnomAD |
|
|
rs1232535694 CA365417802 |
6 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365417787 rs1439700987 |
7 | S>C | No |
ClinGen gnomAD |
|
|
rs749020215 CA3972253 |
7 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3972252 rs777262863 |
7 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365417759 rs756535136 |
9 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756535136 CA3972251 |
9 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049922955 CA145950673 |
10 | R>P | No |
ClinGen Ensembl |
|
|
CA365417755 rs1354474475 |
10 | R>S | No |
ClinGen TOPMed |
|
|
CA365417736 rs1209371790 |
11 | L>P | No |
ClinGen TOPMed |
|
|
rs1268134068 CA365417732 |
12 | G>S | No |
ClinGen TOPMed |
|
|
CA3972250 rs753015667 |
13 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247812988 CA365417707 |
13 | R>L | No |
ClinGen TOPMed |
|
|
rs1247812988 CA365417710 |
13 | R>P | No |
ClinGen TOPMed |
|
|
CA365417702 rs982816201 |
14 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs982816201 CA145950669 |
14 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1394568703 CA365417649 |
16 | T>K | No |
ClinGen TOPMed |
|
|
rs1394568703 CA365417645 |
16 | T>R | No |
ClinGen TOPMed |
|
|
CA365417653 rs1456042650 |
16 | T>S | No |
ClinGen TOPMed |
|
|
CA145950659 rs919904454 |
17 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755407736 CA365417578 |
20 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755407736 CA3972248 |
20 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921667859 CA145950646 |
22 | G>R | No |
ClinGen Ensembl |
|
|
CA3972247 rs752053004 |
23 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365417484 rs1244329230 |
25 | L>I | No |
ClinGen TOPMed |
|
|
rs762917190 CA365417466 |
26 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762917190 CA3972245 |
26 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA365417427 rs1376027204 |
27 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs527815452 CA3972244 |
28 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1188707018 CA365417390 |
30 | R>Q | No |
ClinGen TOPMed |
|
|
rs762164285 CA3972243 |
30 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254492322 CA365417373 |
31 | P>S | No |
ClinGen TOPMed |
|
|
CA365417356 rs1159425611 |
32 | A>S | No |
ClinGen gnomAD |
|
|
rs1471188189 CA365417339 |
33 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1486259184 CA365417327 |
34 | A>G | No |
ClinGen gnomAD |
|
|
rs957087385 CA145950606 |
34 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1486259184 CA365417325 |
34 | A>V | No |
ClinGen gnomAD |
|
|
rs775366828 CA3972241 |
35 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA365417314 rs1214004414 |
35 | L>R | No |
ClinGen gnomAD |
|
|
rs775366828 CA365417321 |
35 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA365417292 rs1387883064 |
37 | P>L | No |
ClinGen TOPMed |
|
|
CA145950589 rs998579356 |
46 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3972238 rs774409919 |
47 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs979924187 CA145950531 |
48 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357482615 CA365417136 |
49 | P>L | No |
ClinGen TOPMed |
|
|
CA365417129 rs770518037 |
50 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3972237 rs770518037 |
50 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748710434 CA3972236 |
50 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772944666 CA3972235 |
51 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145950518 rs997168970 |
53 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365417070 rs1420642110 |
55 | Q>* | No |
ClinGen gnomAD |
|
|
CA365417071 rs1420642110 |
55 | Q>E | No |
ClinGen gnomAD |
|
|
rs1218849926 CA365417058 |
56 | G>V | No |
ClinGen TOPMed |
|
|
rs748513764 CA3972233 |
57 | H>P | No |
ClinGen ExAC |
|
|
rs747332119 CA145950215 |
58 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs747332119 CA3972211 |
58 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1243094317 CA365417050 |
58 | G>R | No |
ClinGen gnomAD |
|
|
rs540446538 CA3972209 |
59 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745964030 CA3972207 |
60 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1544624 rs778918883 CA3972206 |
61 | H>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759517674 CA3972204 |
62 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759517674 CA3972205 |
62 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365417005 rs1244461737 |
63 | V>F | No |
ClinGen TOPMed |
|
|
CA365416996 rs764374762 |
64 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs918211708 CA145950169 |
64 | P>L | No |
ClinGen TOPMed |
|
|
rs764374762 CA3972203 |
64 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766348617 CA3972200 |
65 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs766348617 CA3972201 |
65 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3972199 rs762862107 |
66 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3972198 rs750357032 |
66 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA365416958 rs1211838280 |
67 | R>C | No |
ClinGen gnomAD |
|
|
rs764774214 CA3972197 |
67 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761278994 CA3972196 |
68 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs919743580 CA145950077 |
68 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs919743580 CA365416946 |
68 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776294542 CA3972195 |
70 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1375399529 CA365416907 |
71 | Q>* | No |
ClinGen gnomAD |
|
|
CA365416899 CA3972193 rs654128 VAR_053782 |
71 | Q>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3972192 rs775648719 |
72 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA145950060 rs961440364 |
74 | K>E | No |
ClinGen TOPMed |
|
|
CA365416860 rs1162855285 |
74 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 79 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365416783 rs1417974400 |
80 | T>R | No |
ClinGen gnomAD |
|
|
CA365416768 rs1442302984 |
81 | G>E | No |
ClinGen TOPMed |
|
|
COSM1072452 CA365416759 rs746411168 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3972189 rs746411168 |
82 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365416742 rs1339932457 |
83 | F>L | No |
ClinGen gnomAD |
|
|
rs200657943 CA3972188 |
84 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271113680 CA365416707 |
86 | M>L | No |
ClinGen TOPMed |
|
|
CA365416700 rs1256733077 |
87 | E>K | No |
ClinGen gnomAD |
|
|
CA365416691 rs771166739 |
88 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3972187 rs771166739 |
88 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA145950002 rs374734432 |
90 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs749335067 CA3972186 |
90 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3972184 rs756342428 |
91 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA365416634 rs1357002619 |
93 | I>F | No |
ClinGen gnomAD |
|
|
rs752963948 CA3972183 |
93 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758155500 CA3972162 |
95 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3972163 rs758155500 |
95 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1371282378 CA365415876 |
96 | E>K | No |
ClinGen gnomAD |
|
|
CA365415840 rs778832747 CA3972160 |
97 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1346806900 CA365415855 |
97 | M>V | No |
ClinGen TOPMed |
|
|
CA3972159 rs757119929 |
98 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365415775 rs1468062485 |
101 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM1487160 rs1468062485 CA365415777 |
101 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA365415762 rs1321362336 |
101 | A>V | No |
ClinGen TOPMed |
|
|
rs755620275 CA3972156 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1222519913 CA365415364 |
105 | A>V | No |
ClinGen TOPMed |
|
|
rs201452724 CA3972155 |
106 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541992567 CA3972154 |
106 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1367867666 CA365415240 |
109 | A>T | No |
ClinGen gnomAD |
|
|
rs1438211138 CA365415199 |
110 | C>Y | No |
ClinGen gnomAD |
|
|
CA365415123 rs1369819509 |
112 | I>V | No |
ClinGen gnomAD |
|
|
rs1388016888 CA365415058 |
114 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs188027180 CA3972152 |
114 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1582436751 CA365415015 |
115 | G>* | No |
ClinGen Ensembl |
|
|
rs199855374 CA3972150 |
115 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3972151 rs199855374 |
115 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA145947769 rs746440501 |
117 | T>K | No |
ClinGen TOPMed |
|
|
CA3972146 rs184749685 |
118 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365414854 rs1201006095 |
119 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3972145 rs748216736 |
119 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41306045 CA365414845 |
120 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41306045 CA3972144 |
120 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1250416299 CA365414822 |
121 | C>S | No |
ClinGen gnomAD |
|
|
COSM3366270 rs1206564487 CA365414700 |
125 | I>T | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365414686 rs768863423 |
126 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3972142 rs768863423 |
126 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278572691 CA365414591 |
129 | K>N | No |
ClinGen gnomAD |
|
|
rs1432734511 CA365414558 |
130 | R>S | No |
ClinGen TOPMed |
|
|
rs1231161883 CA365414570 |
130 | R>T | No |
ClinGen Ensembl |
|
|
CA365411649 rs375099409 |
131 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375099409 CA145940746 |
131 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365411602 rs1435641122 |
132 | V>A | No |
ClinGen TOPMed |
|
|
CA3972070 rs201342470 |
134 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569615377 CA3972069 |
134 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569615377 CA3972068 COSM1661755 |
134 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3972067 rs751293130 |
137 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs751293130 CA365411449 |
137 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA365411435 rs1271171631 |
138 | L>S | No |
ClinGen gnomAD |
|
|
CA3972066 rs779808676 |
139 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1379835076 CA365411376 |
140 | S>I | No |
ClinGen gnomAD |
|
|
CA365411345 rs1285677851 |
141 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273580999 CA365411278 |
143 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1237006341 CA365411204 |
146 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 147 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3972065 rs758853347 |
149 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365411076 COSM1440008 rs1321535137 |
150 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs553850431 COSM3781963 CA3972064 |
150 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA365411064 rs553850431 |
150 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319575278 CA365411055 |
151 | E>* | No |
ClinGen gnomAD |
|
|
CA3972063 rs765665006 |
151 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs267600776 CA145940651 |
156 | A>S | No |
ClinGen gnomAD |
|
|
CA365410932 rs1296629752 |
157 | A>G | No |
ClinGen Ensembl |
|
|
rs764283354 CA3972060 |
157 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1296629752 CA365410931 |
157 | A>V | No |
ClinGen Ensembl |
|
|
rs760706694 CA3972059 |
160 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA365410865 rs1247021923 |
161 | A>S | No |
ClinGen gnomAD |
No associated diseases with Q5T6X4
No regional properties for Q5T6X4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5T6X4 | |||
1 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. |
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 |
4 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRAVGSLLR | LGRGLTVRCG | PGAPLEATRR | PAPALPPRGL | PCYSSGGAPS | NSGPQGHGEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HRVPTQRRPS | QFDKKILLWT | GRFKSMEEIP | PRIPPEMIDT | ARNKARVKAC | YIMIGLTIIA |
| 130 | 140 | 150 | 160 | ||
| CFAVIVSAKR | AVERHESLTS | WNLAKKAKWR | EEAALAAQAK | AK |