P80217
Gene name |
IFI35 |
Protein name |
Interferon-induced 35 kDa protein |
Names |
IFP 35, Ifi-35 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3430 |
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 P80217
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P80217-F1 | Predicted | AlphaFoldDB |
283 variants for P80217
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA399677539 rs1405141914 |
2 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1310890731 CA399677544 |
3 | A>D | No |
ClinGen gnomAD |
|
|
CA399677541 rs1394033786 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs149119295 CA8589054 |
4 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8589055 rs138234610 |
4 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399677556 rs1269604750 |
5 | L>P | No |
ClinGen gnomAD |
|
|
CA290832099 rs977580584 |
6 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 7 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8589056 rs568883512 |
7 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8589076 rs763054365 |
8 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204230170 CA399677791 |
8 | A>V | No |
ClinGen gnomAD |
|
|
rs1490705365 CA399677802 |
10 | H>R | No |
ClinGen gnomAD |
|
|
rs149614000 CA290835389 |
11 | A>T | No |
ClinGen ESP |
|
|
rs867092661 CA290835411 |
12 | L>I | No |
ClinGen Ensembl |
|
|
CA290835416 rs899694270 |
13 | Q>* | No |
ClinGen TOPMed |
|
|
CA399677828 rs1431307668 |
14 | E>K | No |
ClinGen gnomAD |
|
|
CA399677831 rs1178978275 |
14 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8589079 rs12948870 |
16 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148786311 CA8589080 |
18 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399677898 rs1158317108 |
20 | K>T | No |
ClinGen gnomAD |
|
|
CA290835453 rs770588017 |
21 | M>K | No |
ClinGen Ensembl |
|
|
CA290835457 rs866917158 |
23 | L>M | No |
ClinGen Ensembl |
|
|
rs1358815892 CA399677940 |
24 | W>R | No |
ClinGen gnomAD |
|
|
rs142458559 CA8589081 |
25 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367701448 CA8589083 |
27 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA290835500 rs867438277 |
29 | L>M | No |
ClinGen gnomAD |
|
|
rs1597779746 CA399678016 |
31 | K>* | No |
ClinGen Ensembl |
|
|
CA399678023 COSM1383491 rs748648651 CA8589084 |
31 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD NCI-TCGA |
|
CA399678035 rs1361084601 |
32 | E>D | No |
ClinGen gnomAD |
|
|
CA8589085 rs758942957 |
32 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222595930 CA399678046 |
33 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399678049 rs777691679 CA8589088 |
34 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA8589089 rs747130156 |
35 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776914024 CA8589091 |
37 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA399678089 rs1378702889 |
38 | K>E | No |
ClinGen gnomAD |
|
|
rs1263388351 CA399678713 |
44 | S>P | No |
ClinGen gnomAD |
|
|
rs1338270412 CA399678737 |
45 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA290836180 rs370391721 |
47 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1191762352 CA399678816 |
51 | V>A | No |
ClinGen TOPMed |
|
|
rs1295751208 CA399678806 |
51 | V>I | No |
ClinGen gnomAD |
|
|
rs1295751208 CA399678810 |
51 | V>L | No |
ClinGen gnomAD |
|
|
CA8589116 rs768412142 |
53 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780267427 CA290836189 |
53 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399678855 rs1485204949 |
54 | G>E | No |
ClinGen TOPMed |
|
|
rs1230369734 CA399678892 |
58 | Q>K | No |
ClinGen TOPMed |
|
|
rs774360258 CA8589117 |
59 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA399678904 rs1461626278 |
59 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200866570 CA8589118 |
60 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8589119 rs771605420 |
60 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200866570 CA290836196 |
60 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1036850660 CA290836206 |
62 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1308951342 CA399678951 |
63 | P>R | No |
ClinGen TOPMed |
|
|
rs760298021 CA399678965 |
64 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597780479 CA399678961 |
64 | K>R | No |
ClinGen Ensembl |
|
|
CA8589122 rs368042561 |
66 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399679021 rs1597780493 |
69 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 70 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8589124 rs763377602 |
71 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8589123 rs139469566 |
71 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8589125 rs145061445 |
72 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399679066 rs1460713614 |
74 | C>R | No |
ClinGen gnomAD |
|
|
rs752091266 CA8589126 |
74 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597780523 CA399679083 |
75 | P>L | No |
ClinGen Ensembl |
|
|
rs1567743709 CA399679090 |
76 | L>P | No |
ClinGen Ensembl |
|
|
CA399679110 rs141921308 |
78 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399679108 rs141921308 |
78 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8589128 rs141921308 COSM269347 |
78 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA290836299 rs958627925 |
79 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780428452 CA8589131 |
83 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301866217 CA399679177 |
85 | F>S | No |
ClinGen gnomAD |
|
|
CA919844207 rs1567743696 |
85 | F>S | No |
ClinGen Ensembl |
|
|
rs749034220 CA8589132 |
87 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768485533 CA8589133 |
89 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272982982 CA399679277 |
92 | E>D | No |
ClinGen gnomAD |
|
|
rs1375314395 CA399679279 |
93 | Q>E | No |
ClinGen gnomAD |
|
|
rs1287039281 CA399679283 |
93 | Q>H | No |
ClinGen gnomAD |
|
|
rs759166671 CA8589144 |
93 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA399679290 rs1597780656 |
94 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976936685 CA399679321 |
99 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs976936685 CA290836474 |
99 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1294115089 CA399679324 |
99 | E>V | No |
ClinGen gnomAD |
|
|
rs1452229060 CA399679336 |
101 | T>A | No |
ClinGen gnomAD |
|
|
rs374815335 CA8589146 |
101 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8589145 COSM3691593 rs374815335 |
101 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399679335 rs1452229060 |
101 | T>P | No |
ClinGen gnomAD |
|
|
rs374815335 CA8589147 |
101 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8589149 rs750468739 |
102 | I>N | No |
ClinGen ExAC |
|
| TCGA novel | 103 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8589151 rs766627219 |
104 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA399679361 rs1379305891 |
105 | E>Q | No |
ClinGen gnomAD |
|
|
rs1417549605 CA399679369 |
106 | E>Q | No |
ClinGen gnomAD |
|
|
CA8589152 rs754088504 |
107 | C>R | No |
ClinGen ExAC TOPMed |
|
|
rs755193476 CA8589153 |
107 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201830704 CA8589154 |
108 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8589155 rs747914826 |
108 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8589156 rs747914826 |
108 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201830704 CA290836530 |
108 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8589160 rs376682517 |
110 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1210256 rs746463710 CA8589159 |
110 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1597780749 CA399679396 |
111 | V>G | No |
ClinGen Ensembl |
|
|
CA399679403 rs1334338311 |
112 | Q>H | No |
ClinGen TOPMed |
|
|
CA8589161 rs745513010 |
112 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1597780766 CA399679409 |
113 | V>G | No |
ClinGen Ensembl |
|
|
CA399679415 rs1317384276 |
114 | Q>R | No |
ClinGen gnomAD |
|
|
CA399679423 rs1357176258 |
115 | P>T | No |
ClinGen gnomAD |
|
|
rs1209264414 CA399679449 |
117 | E>G | No |
ClinGen gnomAD |
|
|
CA8589164 rs774738003 |
120 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs769354659 CA8589163 |
120 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223120119 CA399679489 |
121 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762089420 CA8589165 |
121 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041538049 CA290836592 |
123 | T>N | No |
ClinGen Ensembl |
|
|
CA8589166 rs768083989 |
123 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1185092955 CA399679511 |
124 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399679518 rs1333270839 |
125 | Q>* | No |
ClinGen TOPMed |
|
|
CA8589167 rs147582201 |
125 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1421326125 CA399679580 |
126 | M>I | No |
ClinGen gnomAD |
|
|
CA399679574 rs588703 CA399679572 |
126 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290836855 rs904640323 |
126 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs588703 VAR_063758 VAR_082872 CA8589186 |
126 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs776729572 CA8589187 |
127 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs759535040 CA8589188 |
128 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399679599 rs1401228109 |
128 | S>R | No |
ClinGen gnomAD |
|
|
CA8589189 rs765440953 |
129 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8589190 rs752849055 |
129 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002597752 CA290836866 |
132 | G>R | No |
ClinGen Ensembl |
|
|
rs763844158 CA8589192 COSM1210257 |
133 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8589191 rs149709197 |
133 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597781007 CA399679647 |
134 | R>G | No |
ClinGen Ensembl |
|
|
CA399679650 rs1567744053 |
134 | R>K | No |
ClinGen Ensembl |
|
|
CA399679665 rs1278145763 |
135 | V>G | No |
ClinGen gnomAD |
|
|
CA8589195 rs757148523 |
136 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1344739643 CA399679681 |
137 | V>F | No |
ClinGen gnomAD |
|
|
CA399679684 rs1597781037 |
137 | V>G | No |
ClinGen Ensembl |
|
|
CA399679696 rs1567744079 |
138 | T>I | No |
ClinGen Ensembl |
|
|
rs1244782411 CA399679727 |
142 | A>T | No |
ClinGen gnomAD |
|
|
rs1198410498 CA399679749 |
144 | L>F | No |
ClinGen gnomAD |
|
|
CA8589196 rs780997177 |
144 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749891046 CA8589197 |
145 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA399679781 rs1567744105 |
147 | S>R | No |
ClinGen Ensembl |
|
|
CA290836935 rs1021825359 |
148 | E>K | No |
ClinGen Ensembl |
|
|
rs968901082 CA290836943 |
150 | E>D | No |
ClinGen Ensembl |
|
|
CA399679811 rs1192224414 |
150 | E>Q | No |
ClinGen gnomAD |
|
|
rs1260942379 CA399679814 |
150 | E>V | No |
ClinGen gnomAD |
|
|
rs779686162 CA399679832 |
152 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779686162 CA8589200 |
152 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377676655 CA8589202 |
153 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8589201 rs748921534 |
153 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs747405142 CA8589204 |
156 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs924751797 CA290836967 |
157 | I>F | No |
ClinGen TOPMed |
|
|
rs145567403 CA8589205 |
157 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769757979 CA399679882 CA8589208 |
158 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777017425 CA8589206 |
158 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8589207 rs760145503 |
158 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8589209 rs369559189 |
159 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8589210 rs763115088 |
159 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs909534000 CA290836999 |
160 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA290837003 rs961121303 |
162 | T>P | No |
ClinGen TOPMed |
|
|
CA399679920 rs1215435767 |
162 | T>S | No |
ClinGen gnomAD |
|
|
rs1283331467 CA399679935 |
163 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs202144105 CA8589213 |
165 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8589214 rs767407648 |
166 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262704928 CA399679971 |
166 | G>R | No |
ClinGen gnomAD |
|
|
CA8589215 rs750326884 |
167 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370544876 CA399680002 |
168 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145578882 CA399679994 |
168 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145578882 CA8589217 |
168 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399679991 rs145578882 |
168 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567744197 CA399680017 |
170 | D>Y | No |
ClinGen Ensembl |
|
|
COSM1254604 rs140488187 CA8589220 |
171 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8589222 rs369228705 |
172 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150695787 RCV000950265 CA8589223 |
172 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8589221 rs369228705 |
172 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770379286 CA8589225 |
174 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs199510319 CA8589231 |
180 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768809782 CA8589230 |
180 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs762166248 CA8589232 |
182 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs564028702 CA8589233 |
184 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8589235 rs374153933 |
187 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457139369 CA399680287 |
187 | G>R | No |
ClinGen gnomAD |
|
|
CA8589236 rs141896991 |
188 | V>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA8589259 rs752302821 |
190 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs201614442 CA8589260 |
191 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8589261 COSM215690 rs146311145 |
191 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372379979 CA8589262 |
193 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780464597 CA8589264 |
194 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs755531972 CA8589266 |
196 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160438703 CA399680468 |
197 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA399680539 rs1195864462 |
201 | P>L | No |
ClinGen gnomAD |
|
|
rs1264537639 CA399680550 |
203 | G>S | No |
ClinGen gnomAD |
|
|
rs1192116527 CA399680570 |
204 | G>E | No |
ClinGen gnomAD |
|
|
rs1427762301 CA399680588 |
205 | Q>H | No |
ClinGen gnomAD |
|
|
rs748294501 CA8589268 |
206 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748294501 CA399680593 |
206 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1313075664 CA399680618 |
207 | V>A | No |
ClinGen Ensembl |
|
|
CA399680648 rs1597781492 |
210 | R>G | No |
ClinGen Ensembl |
|
|
rs550567872 CA8589271 |
210 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550567872 CA8589270 |
210 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1312606222 CA399680664 |
211 | V>D | No |
ClinGen TOPMed |
|
|
CA399680676 rs1305496854 |
212 | S>F | No |
ClinGen TOPMed |
|
|
CA8589272 rs200811245 |
213 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200811245 CA399680687 |
213 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8589275 rs769873611 |
214 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013052001 CA290837370 |
215 | V>M | No |
ClinGen Ensembl |
|
|
rs13229 CA8589277 |
216 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1278204829 CA399680748 |
217 | G>E | No |
ClinGen gnomAD |
|
|
rs1218377147 CA399680743 |
217 | G>R | No |
ClinGen gnomAD |
|
|
CA8589278 rs763570551 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399680805 rs998516333 |
221 | K>R | No |
ClinGen gnomAD |
|
|
rs998516333 CA290837395 |
221 | K>T | No |
ClinGen gnomAD |
|
|
CA290837399 rs761497733 |
222 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761497733 CA8589280 |
222 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934065641 CA290837410 |
223 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1444820347 CA399680903 |
224 | I>M | No |
ClinGen TOPMed |
|
|
rs764211735 CA8589306 |
226 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8589305 rs764211735 |
226 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764211735 CA399680921 |
226 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399680932 rs1440979116 |
227 | Q>R | No |
ClinGen TOPMed |
|
|
CA8589308 rs781579279 |
228 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1460552450 CA399680951 |
229 | V>D | No |
ClinGen TOPMed |
|
|
CA8589309 rs746151762 |
229 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8589310 rs755969340 |
231 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941550865 CA290837759 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs376408544 CA290837760 |
232 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376408544 CA8589311 |
232 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8589314 rs773873458 |
233 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389937216 CA399680988 |
234 | L>P | No |
ClinGen gnomAD |
|
|
CA8589315 rs747665468 |
235 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8589317 rs143278077 |
236 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1342859075 CA399681047 |
238 | I>T | No |
ClinGen gnomAD |
|
|
CA399681056 rs765602573 |
239 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8589320 rs765602573 |
239 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs376575632 CA399681066 |
240 | D>A | No |
ClinGen ESP gnomAD |
|
|
rs376575632 CA290837788 |
240 | D>G | No |
ClinGen ESP gnomAD |
|
|
CA290837799 rs376575632 |
240 | D>V | No |
ClinGen ESP gnomAD |
|
|
rs1012015674 CA290837785 |
240 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399681093 rs1278845476 |
242 | L>S | No |
ClinGen gnomAD |
|
|
CA8589323 rs201486546 |
245 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8589322 rs763467879 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 246 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8589318 rs773024475 |
246 | E>H | No |
ClinGen ExAC gnomAD |
|
|
CA399681170 rs1323246396 |
247 | L>P | No |
ClinGen TOPMed |
|
|
rs1478138073 CA399681187 |
248 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399681215 rs751620948 CA8589325 |
249 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140218345 CA8589326 |
250 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399681231 rs1467352458 |
251 | L>P | No |
ClinGen gnomAD |
|
|
CA8589327 rs767774874 |
253 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8589328 rs750642778 |
254 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA399681363 rs756341282 |
260 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8589330 rs561841119 |
260 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756341282 CA8589329 |
260 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749072575 CA8589335 |
261 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs754880852 CA8589336 |
262 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs778732814 CA8589339 |
263 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399681404 rs1235823515 |
264 | E>* | No |
ClinGen gnomAD |
|
|
CA8589340 rs748139594 |
265 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748139594 CA399681425 |
265 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1275089790 CA399681417 COSM1383494 |
265 | V>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1048299 CA8589342 |
266 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746639337 CA8589343 |
267 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8589346 rs763230372 |
268 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775882822 CA399681460 |
268 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs764579489 CA8589347 |
269 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764579489 CA8589348 |
269 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs767684956 CA8589350 |
270 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8589349 rs762451969 |
270 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399681475 rs762451969 |
270 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8589352 COSM3402918 rs375429330 |
271 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399681517 rs1288822870 |
273 | Q>* | No |
ClinGen gnomAD |
|
|
CA8589355 rs148626513 |
274 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399681568 rs1388896310 |
276 | Q>E | No |
ClinGen gnomAD |
|
|
CA399681574 rs142126580 |
276 | Q>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1324704067 CA399681571 |
276 | Q>R | No |
ClinGen gnomAD |
|
|
CA8589357 rs752596965 |
277 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs201858273 CA8589358 |
279 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201858273 CA399681611 |
279 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399681620 rs1310943236 |
280 | V>L | No |
ClinGen gnomAD |
|
|
rs1048323 CA290837970 |
283 | S>F | No |
ClinGen Ensembl |
|
|
rs1238715832 CA399681671 |
283 | S>P | No |
ClinGen gnomAD |
|
|
CA8589360 rs777215135 |
284 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1489461242 CA399681709 |
286 | G>S | No |
ClinGen gnomAD |
|
|
rs1313194825 CA399681731 |
287 | G>W | No |
ClinGen TOPMed |
No associated diseases with P80217
3 regional properties for P80217
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Nmi/IFP 35 domain | 81 - 170 | IPR009909-1 |
| domain | Nmi/IFP 35 domain | 180 - 267 | IPR009909-2 |
| domain | Nmi/IFP 35 domain, N-terminal | 9 - 80 | IPR009938 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| macrophage activation involved in immune response | A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of NIK/NF-kappaB signaling | Any process that stops, prevents or reduces the frequency, rate or extent of NIK/NF-kappaB signaling. |
| positive regulation of inflammatory response | Any process that activates or increases the frequency, rate or extent of the inflammatory response. |
| positive regulation of innate immune response | Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
| positive regulation of NIK/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
| positive regulation of toll-like receptor 4 signaling pathway | Any process that activates or increases the frequency, rate, or extent of toll-like receptor 4 signaling pathway. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O35309 | Nmi | N-myc-interactor | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAPLDAALH | ALQEEQARLK | MRLWDLQQLR | KELGDSPKDK | VPFSVPKIPL | VFRGHTQQDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EVPKSLVSNL | RIHCPLLAGS | ALITFDDPKV | AEQVLQQKEH | TINMEECRLR | VQVQPLELPM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTTIQMSSQL | SGRRVLVTGF | PASLRLSEEE | LLDKLEIFFG | KTRNGGGDVD | VRELLPGSVM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGFARDGVAQ | RLCQIGQFTV | PLGGQQVPLR | VSPYVNGEIQ | KAEIRSQPVP | RSVLVLNIPD |
| 250 | 260 | 270 | 280 | ||
| ILDGPELHDV | LEIHFQKPTR | GGGEVEALTV | VPQGQQGLAV | FTSESG |