O60667
Gene name |
FCMR |
Protein name |
Fas apoptotic inhibitory molecule 3 |
Names |
IgM Fc fragment receptor, Regulator of Fas-induced apoptosis Toso |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9214 |
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
8 structures for O60667
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7YSG | EM | 318 A | R/S/U/V | 18-124 | PDB |
| 7YTC | EM | 339 A | R | 18-124 | PDB |
| 7YTD | EM | 371 A | R/S/U/V | 18-124 | PDB |
| 7YTE | X-ray | 300 A | C/D | 18-124 | PDB |
| 8BPE | EM | 363 A | I/M/N/O/P/Q/R/S | 18-251 | PDB |
| 8BPF | EM | 350 A | I | 18-251 | PDB |
| 8BPG | EM | 310 A | A/B | 18-251 | PDB |
| AF-O60667-F1 | Predicted | AlphaFoldDB |
322 variants for O60667
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA344494812 rs1350151656 |
2 | D>G | No |
ClinGen gnomAD |
|
|
rs114123219 CA1364871 |
3 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1364870 rs757911655 |
4 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1364869 rs147642736 |
5 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764899080 CA1364868 |
6 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs759853868 CA344494774 |
8 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1364867 rs759853868 |
8 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA344494763 rs1558007468 |
9 | Y>* | No |
ClinGen Ensembl |
|
|
rs1414899770 CA344494747 |
12 | P>A | No |
ClinGen gnomAD |
|
|
CA1364865 rs552102761 |
13 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297375893 CA344492211 |
14 | S>L | No |
ClinGen gnomAD |
|
|
CA1364832 rs770859702 |
16 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1364833 rs775505567 |
16 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777892635 CA1364830 |
21 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs140166670 CA1364828 |
22 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778545589 CA1364827 |
25 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778545589 CA344492019 |
25 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs754442724 CA1364826 |
26 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364825 rs753534621 |
28 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs779983414 | 28 | E>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 29 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264898267 CA344491948 |
29 | L>V | No |
ClinGen TOPMed |
|
|
rs1199005341 CA344491932 |
30 | G>R | No |
ClinGen TOPMed |
|
|
CA1364819 rs762438219 |
31 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs200811923 CA1364820 CA1364821 |
31 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344491851 rs1273448087 |
34 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1364818 rs770987820 |
35 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA36566421 rs770987820 |
35 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA344491821 rs1309666043 |
36 | K>M | No |
ClinGen gnomAD |
|
|
rs762880718 CA344491741 |
40 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762880718 CA1364816 |
40 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1393194498 CA344491682 |
42 | M>I | No |
ClinGen TOPMed |
|
|
CA36566398 rs991913284 |
42 | M>T | No |
ClinGen TOPMed |
|
|
CA344491661 rs1277667664 |
43 | H>Q | No |
ClinGen TOPMed |
|
|
rs1356627251 CA344491658 |
44 | V>M | No |
ClinGen gnomAD |
|
|
CA36566376 rs958676725 |
45 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344491617 rs1369966667 |
46 | I>L | No |
ClinGen gnomAD |
|
|
rs139493002 CA344491608 |
46 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1364814 rs144545406 |
46 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1364811 rs538577206 |
50 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344491545 rs370696168 |
50 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373934644 CA344491508 |
52 | M>L | No |
ClinGen gnomAD |
|
|
CA1364807 rs774091460 |
55 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA344491431 rs1249164453 |
56 | G>E | No |
ClinGen gnomAD |
|
|
rs768225740 CA1364806 |
56 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA344491404 rs1481399347 |
58 | C>R | No |
ClinGen gnomAD |
|
|
rs781602626 CA1364801 |
61 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1251690 rs981290107 CA36566297 |
61 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757494473 CA1364800 |
63 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1364799 rs752118035 |
65 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967220083 CA36566250 |
65 | T>I | No |
ClinGen gnomAD |
|
|
rs967220083 CA344491298 |
65 | T>N | No |
ClinGen gnomAD |
|
|
rs764455584 CA344491272 |
66 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA36566228 rs1020537472 |
69 | K>E | No |
ClinGen Ensembl |
|
|
rs1291634581 CA344491199 |
70 | A>V | No |
ClinGen gnomAD |
|
|
CA1364797 rs758532665 |
75 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM532176 rs373086444 CA1364796 COSM1648464 |
75 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765390434 CA1364795 |
78 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1471541465 CA344491076 |
79 | K>R | No |
ClinGen gnomAD |
|
|
rs1572626398 CA344491016 |
82 | P>R | No |
ClinGen Ensembl |
|
|
rs138817695 CA1364793 |
83 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1364794 rs138817695 |
83 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1338326 CA36566171 rs995859431 |
83 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs774368392 CA1364790 |
85 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344490945 rs1398249741 |
87 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344490900 rs1358717797 |
89 | V>E | No |
ClinGen TOPMed |
|
|
CA344490818 rs1401986782 |
94 | L>P | No |
ClinGen TOPMed |
|
|
CA36566152 rs976794970 |
98 | D>G | No |
ClinGen TOPMed |
|
|
CA1364788 CA1364787 rs371358524 |
99 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769287956 CA1364786 |
100 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376942711 CA1364785 |
101 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1329050310 CA344490701 |
101 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1329624598 CA344490670 |
103 | A>T | No |
ClinGen gnomAD |
|
|
rs150550509 COSM903028 CA1364783 |
105 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA344490629 rs1327644479 |
106 | A>T | No |
ClinGen gnomAD |
|
|
CA1364782 rs138175929 COSM903027 |
106 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1364779 rs753245238 |
107 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765483125 CA1364778 |
110 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1364777 rs755042951 |
110 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754128185 CA344490592 |
111 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs200225589 CA36566063 |
112 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs768410930 CA1364775 |
112 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774062671 TCGA novel CA1364773 |
113 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA1364774 rs761700601 |
113 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1364772 rs763935075 |
116 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs571196023 CA36566010 |
120 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 120 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1364769 rs368812381 |
123 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758995799 CA1364768 |
124 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1305440183 CA344490511 |
125 | E>K | No |
ClinGen gnomAD |
|
|
CA344490300 rs1486698912 |
126 | Y>H | No |
ClinGen gnomAD |
|
|
rs749787467 CA1364740 |
127 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364739 rs780062992 |
128 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756152640 CA1364738 |
130 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1572625134 CA344490187 |
132 | E>D | No |
ClinGen Ensembl |
|
|
rs1386407212 CA344490193 |
132 | E>Q | No |
ClinGen TOPMed |
|
|
CA1364737 rs750622888 |
133 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA344490166 rs1181752667 |
135 | M>I | No |
ClinGen Ensembl |
|
|
CA1364736 rs369159077 |
135 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758215939 CA1364735 |
137 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233750449 CA344490154 |
137 | E>V | No |
ClinGen gnomAD |
|
|
CA344490135 rs1356846866 |
140 | K>T | No |
ClinGen gnomAD |
|
|
CA344490124 rs1417730538 |
141 | W>C | No |
ClinGen gnomAD |
|
|
rs1001678575 CA36565251 |
141 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1295897477 CA344490130 |
141 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA344490110 rs1354749224 |
143 | H>Q | No |
ClinGen gnomAD |
|
|
COSM212961 rs141485983 CA1364734 |
143 | H>Y | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1364733 rs764992422 |
144 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1230124154 CA344490105 |
144 | L>R | No |
ClinGen TOPMed |
|
|
CA344490108 rs764992422 |
144 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1403969048 CA344490104 |
145 | P>T | No |
ClinGen gnomAD |
|
|
rs150066058 CA1364732 |
147 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1364731 rs753811648 |
149 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765816162 CA1364730 |
149 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA36565164 rs916059713 |
155 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1364727 rs767239321 |
158 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1364726 rs199994920 |
159 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364725 rs774906493 |
160 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs578060627 CA1364724 |
161 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1281930734 CA344489973 |
163 | V>A | No |
ClinGen gnomAD |
|
|
CA1364722 rs776007536 |
163 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1364704 rs111888932 |
166 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344489958 rs111888932 |
166 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1364703 rs549231837 |
167 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776746733 CA1364702 |
169 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344489919 rs1171820744 |
172 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs144958422 CA1364700 |
173 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA36564420 rs912263913 |
173 | P>S | No |
ClinGen TOPMed |
|
|
rs1558001980 CA344489900 |
175 | V>A | No |
ClinGen Ensembl |
|
|
CA344489891 rs1359818361 CA344489892 |
176 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747239800 CA344489890 |
177 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs747239800 CA1364697 |
177 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1364696 rs777918268 |
178 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1486143138 CA344489861 |
181 | T>I | No |
ClinGen gnomAD |
|
|
CA1364692 rs756128168 |
182 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767139267 CA1364690 |
185 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1364688 rs751278999 |
186 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1364689 rs756767560 |
186 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1364687 rs763799731 |
187 | R>C | Variant assessed as Somatic; 4.658e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763799731 CA36564282 |
187 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364686 rs762478139 |
187 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344489829 rs763799731 |
187 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364685 rs540532782 |
188 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1364684 rs765056259 COSM1689746 |
189 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760153308 CA1364683 |
189 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344489814 rs1414261006 |
190 | V>A | No |
ClinGen gnomAD |
|
|
rs1315049402 CA344489780 |
196 | V>L | No |
ClinGen gnomAD |
|
|
CA1364681 rs371965045 |
198 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1558001844 CA344489753 |
200 | K>T | No |
ClinGen Ensembl |
|
|
CA1364679 rs773454788 |
201 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1364680 rs773454788 |
201 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1364678 rs533046547 |
202 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs748297804 CA36564228 |
207 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748297804 CA1364677 |
207 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36564226 COSM1500738 rs1001936972 |
209 | T>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA344489679 rs1425677268 |
213 | I>V | No |
ClinGen gnomAD |
|
|
rs1326234282 CA344489667 |
214 | S>* | No |
ClinGen TOPMed |
|
|
rs962595967 CA36564214 |
215 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1212608529 CA344489662 |
215 | A>V | No |
ClinGen gnomAD |
|
|
rs1572623465 CA344489657 |
216 | L>R | No |
ClinGen Ensembl |
|
|
rs371800032 CA36564205 |
218 | G>V | No |
ClinGen Ensembl |
|
|
rs575369868 CA36564190 |
223 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344489608 rs748391555 |
224 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364673 rs748391555 |
224 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1572623428 CA344489611 |
224 | T>P | No |
ClinGen Ensembl |
|
|
CA344489606 rs892091345 |
225 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA36564157 rs892091345 |
225 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1233166727 COSM903025 CA344489598 |
226 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1572623372 CA344489582 |
228 | N>T | No |
ClinGen Ensembl |
|
|
rs1483126597 CA344489575 |
229 | H>D | No |
ClinGen TOPMed |
|
|
CA1364671 rs751151949 |
229 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
rs777121550 CA1364670 |
230 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1024264656 CA36564148 |
230 | H>Y | No |
ClinGen TOPMed |
|
|
CA344489559 rs1396030280 |
231 | T>I | No |
ClinGen gnomAD |
|
|
CA344489556 rs1297445395 |
232 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344489540 rs368503889 |
234 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375707563 CA1364666 CA344489533 |
235 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1000837926 CA344489520 |
237 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA36564141 rs1000837926 |
237 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA344489337 rs1203839656 |
238 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344489338 rs1203839656 |
238 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1261339339 CA344489315 |
241 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344489273 rs1558000992 |
244 | Q>H | No |
ClinGen Ensembl |
|
|
CA344489256 rs1288691232 |
245 | S>F | No |
ClinGen TOPMed |
|
|
rs1241511089 CA344489247 |
246 | G>E | No |
ClinGen gnomAD |
|
|
rs754241381 CA1364646 |
246 | G>W | No |
ClinGen ExAC |
|
|
rs1558000959 CA344489200 |
249 | G>D | No |
ClinGen Ensembl |
|
|
CA344489183 rs1371386849 |
250 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA344489172 rs1325480523 |
251 | G>R | No |
ClinGen gnomAD |
|
|
CA344489125 rs1380406873 |
253 | H>R | No |
ClinGen gnomAD |
|
|
CA1364645 rs566552943 |
254 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344489113 rs566552943 |
254 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756673216 CA1364644 |
255 | L>P | No |
ClinGen ExAC |
|
|
CA1364643 rs376892573 |
257 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344489061 rs376892573 |
257 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1172562819 CA344489048 |
258 | T>I | No |
ClinGen gnomAD |
|
|
rs1172562819 CA344489044 |
258 | T>S | No |
ClinGen gnomAD |
|
|
rs1259949045 CA344489039 |
259 | I>V | No |
ClinGen TOPMed |
|
|
rs866697158 CA36563391 |
260 | L>M | No |
ClinGen Ensembl |
|
|
rs1454989144 CA344489014 |
260 | L>R | No |
ClinGen gnomAD |
|
|
CA344489007 rs1248783128 |
261 | G>S | No |
ClinGen gnomAD |
|
|
CA36563384 rs895473135 |
262 | L>F | No |
ClinGen TOPMed |
|
|
CA1364640 rs200596517 |
265 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1218884961 CA344488969 |
266 | A>T | No |
ClinGen gnomAD |
|
|
rs1015080050 CA36563377 |
267 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1180200740 CA344488962 |
267 | L>H | No |
ClinGen TOPMed |
|
| TCGA novel | 268 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1364639 rs764263343 |
269 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs770585880 CA1364638 |
271 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776621652 CA1364637 |
274 | R>K | No |
ClinGen ExAC |
|
|
rs776621652 CA344488883 |
274 | R>M | No |
ClinGen ExAC |
|
|
rs1276370549 CA344488862 |
275 | A>D | No |
ClinGen gnomAD |
|
|
CA344488869 rs1345479032 |
275 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344488837 rs1225201506 |
277 | E>Q | No |
ClinGen gnomAD |
|
|
CA1364636 rs770843304 |
278 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344488697 rs1295523063 |
281 | A>D | No |
ClinGen TOPMed |
|
|
rs1338436984 CA344488617 |
285 | R>P | No |
ClinGen gnomAD |
|
|
CA344488581 rs1450377521 |
287 | R>G | No |
ClinGen TOPMed |
|
|
rs1278764915 CA344488559 |
288 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1278764915 CA344488561 |
288 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1220352913 CA344488552 |
288 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1353050525 CA344488515 |
290 | A>D | No |
ClinGen gnomAD |
|
|
rs1187597174 CA344488522 |
290 | A>T | No |
ClinGen TOPMed |
|
|
CA344488466 rs1387907494 |
292 | R>S | No |
ClinGen TOPMed |
|
|
CA344488418 rs887911195 |
295 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs887911195 CA36563059 |
295 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1403472231 CA344488397 |
296 | L>P | No |
ClinGen TOPMed |
|
|
CA36563052 rs867145899 |
297 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1306588532 CA344488374 |
299 | S>T | No |
ClinGen gnomAD |
|
|
CA344488372 rs1273383310 |
299 | S>Y | No |
ClinGen gnomAD |
|
|
CA344488361 rs1572620676 |
300 | Q>H | No |
ClinGen Ensembl |
|
|
CA1364622 rs559575559 |
301 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1364623 rs559575559 |
301 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1364621 rs763329858 |
303 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA344488340 rs1417295011 |
303 | R>H | No |
ClinGen gnomAD |
|
|
CA344488334 rs1342784261 |
304 | G>R | No |
ClinGen gnomAD |
|
|
rs546416340 CA344488323 |
305 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1364620 rs546416340 |
305 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA36563014 rs1056457856 |
306 | P>L | No |
ClinGen gnomAD |
|
|
CA1364619 rs192734594 |
307 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760340568 CA1364618 |
308 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36562996 rs1043626156 |
309 | R>H | No |
ClinGen Ensembl |
|
|
rs773235214 CA1364617 |
311 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773235214 CA344488273 |
311 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344488257 rs1200509662 |
313 | N>S | No |
ClinGen gnomAD |
|
|
rs1039020260 CA36562979 |
314 | I>L | No |
ClinGen TOPMed |
|
|
CA36562972 rs563855490 |
317 | A>T | No |
ClinGen 1000Genomes |
|
|
CA36562966 rs749750564 |
318 | C>F | No |
ClinGen Ensembl |
|
|
rs771946459 CA1364615 |
318 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs946541423 CA36562955 |
320 | R>L | No |
ClinGen TOPMed |
|
|
rs1380636734 CA344488191 |
321 | R>P | No |
ClinGen gnomAD |
|
|
CA344488195 rs1355387443 |
321 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344488186 rs1172946534 |
322 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA344488185 rs1172946534 |
322 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA344488176 rs1277415546 |
323 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA344488172 rs1572620420 |
323 | R>L | No |
ClinGen Ensembl |
|
|
CA344488177 rs1277415546 |
323 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779209742 CA1364614 |
324 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs779209742 CA344488164 |
324 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs773792868 CA344488156 |
325 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364613 rs773792868 |
325 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36562895 rs992570170 |
326 | D>E | No |
ClinGen TOPMed |
|
|
rs544145639 CA36562910 |
326 | D>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA36562917 rs918083375 |
326 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA36562686 rs929539458 |
329 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA36562652 rs922378937 |
331 | G>E | No |
ClinGen Ensembl |
|
|
rs1271654408 CA344488102 |
331 | G>W | No |
ClinGen Ensembl |
|
|
CA344488094 rs1329001271 |
332 | E>* | No |
ClinGen TOPMed |
|
|
rs1303532689 CA344488082 |
333 | A>V | No |
ClinGen TOPMed |
|
|
rs377292566 CA36562647 |
335 | V>I | No |
ClinGen TOPMed |
|
|
CA344488040 rs1420617186 |
336 | P>H | No |
ClinGen gnomAD |
|
|
rs1313900016 CA344488025 |
337 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs372229079 CA1364602 |
337 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344488000 rs1453566159 |
338 | P>L | No |
ClinGen TOPMed |
|
|
rs1572619894 CA344488012 |
338 | P>S | No |
ClinGen Ensembl |
|
|
CA344487900 rs765519847 |
343 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1364601 rs765519847 |
343 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344487827 rs1393263270 |
346 | P>Q | No |
ClinGen TOPMed |
|
|
rs985030613 CA36562606 |
348 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1572619821 CA344487800 |
348 | Q>K | No |
ClinGen Ensembl |
|
|
rs774948123 CA1364593 |
349 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344487178 rs1362466905 |
351 | E>G | No |
ClinGen gnomAD |
|
|
rs1418063460 CA344487168 |
353 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344487149 rs1401813006 |
355 | L>P | No |
ClinGen TOPMed |
|
|
rs1434288566 CA344487145 |
356 | H>Y | No |
ClinGen gnomAD |
|
|
CA1364591 rs41304091 |
357 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41304091 CA1364590 |
357 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771257745 CA1364589 |
358 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344487132 rs771257745 |
358 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344487133 rs1176517937 |
358 | P>S | No |
ClinGen gnomAD |
|
|
CA344487110 rs1417312230 |
362 | T>A | No |
ClinGen gnomAD |
|
|
rs1477878353 CA344487090 |
364 | C>W | No |
ClinGen gnomAD |
|
|
rs200690250 CA1364587 |
365 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344487078 rs1208336957 |
366 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs758585451 CA344487074 |
367 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758585451 CA1364586 |
367 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1572612816 CA344487052 |
370 | Y>S | No |
ClinGen Ensembl |
|
|
rs1572612801 CA344487044 |
371 | H>P | No |
ClinGen Ensembl |
|
|
rs1572612771 CA344487027 |
373 | P>R | No |
ClinGen Ensembl |
|
|
rs200837472 CA1364582 |
375 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344487015 rs1209825651 |
375 | A>V | No |
ClinGen TOPMed |
|
|
rs138108842 CA1364580 |
376 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767222143 CA1364581 |
376 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA344487013 rs1288276186 |
376 | M>V | No |
ClinGen TOPMed |
|
|
rs751526857 CA1364579 |
377 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1414466795 CA344486999 |
378 | E>K | No |
ClinGen gnomAD |
|
|
rs1304747353 CA344486971 |
381 | D>G | No |
ClinGen gnomAD |
|
|
rs1199975719 CA344486954 |
383 | D>E | No |
ClinGen TOPMed |
|
|
CA1364577 rs762854507 |
384 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1364576 rs775039633 |
386 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs775039633 CA344486938 |
386 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1364574 rs769337842 |
387 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867831977 CA36559493 |
387 | N>Y | No |
ClinGen Ensembl |
|
|
rs1009267266 CA36559477 |
389 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs142847006 CA1364573 |
389 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1364572 rs776285839 |
390 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1364571 rs771220479 |
391 | A>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | A>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O60667
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular defense response | A defense response that is mediated by cells. |
| immune system process | Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by 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 |
| MDFWLWPLYF | LPVSGALRIL | PEVKVEGELG | GSVTIKCPLP | EMHVRIYLCR | EMAGSGTCGT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VVSTTNFIKA | EYKGRVTLKQ | YPRKNLFLVE | VTQLTESDSG | VYACGAGMNT | DRGKTQKVTL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NVHSEYEPSW | EEQPMPETPK | WFHLPYLFQM | PAYASSSKFV | TRVTTPAQRG | KVPPVHHSSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTQITHRPRV | SRASSVAGDK | PRTFLPSTTA | SKISALEGLL | KPQTPSYNHH | TRLHRQRALD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YGSQSGREGQ | GFHILIPTIL | GLFLLALLGL | VVKRAVERRK | ALSRRARRLA | VRMRALESSQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RPRGSPRPRS | QNNIYSACPR | RARGADAAGT | GEAPVPGPGA | PLPPAPLQVS | ESPWLHAPSL |
| 370 | 380 | ||||
| KTSCEYVSLY | HQPAAMMEDS | DSDDYINVPA |