O43278
EV
Gene name |
SPINT1 (HAI1, UNQ223/PRO256) |
Protein name |
Kunitz-type protease inhibitor 1 |
Names |
Hepatocyte growth factor activator inhibitor type 1, HAI-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6692 |
EC number |
|
Protein Class |
KUNITZ-TYPE PROTEASE INHIBITOR 1 (PTHR46750) |
Descriptions
Kunitz-type protease inhibitor 1 (HAI-1) is important in the integrity of the basement membrane during placental development and maintaining postnatal tissue homeostasis including keratinization of the epidermis, hair development, colonic epithelium integrity, proliferation and cell fate of neural progenitor cells, and tissue injury and repair. HAI-1 is a membrane-bound multidomain protein containing an extracellular region that consists of a MANEC (motif at N terminus with eight cysteines, or MANSC) PAN-apple-like domain, an internal PKD-like domain, a Kunitz domain 1, a low-density lipoprotein receptor class A (LDLRA) domain, and a Kunitz domain 2 followed by a C-terminal single-span transmembrane region.
HAI-1 inhibits a number of serine proteases, including matriptase, HGFA, hepsin, trypsin, and prostasin. The full-length extracellular portion of HAI-1 (sHAI-1) shows weaker inhibitory activity toward target proteases than the smaller fragments, suggesting autoinhibition of HAI-1. The full-length extracellular domain of HAI-1 (sHAI-1) has a compact conformation mediated by the MANEC domain and a long but well-ordered linker (365-linker), which sterically blocks the active site in Kunitz domain 1. Kunitz domain 2 also slightly inhibits the inhibitory activity of sHAI-1 in synergy with MANEC domain.
Also, an N-linked glycan moiety in the MANEC domain (Asn66) can block an additionally larger surrounding area from protease accessibility and the deglycosylation of Asn66 leads to stronger protease suppressive activity by releasing the autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
247-301 (Kunitz domain 1) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Structural analysis |
Target domain |
247-301 (Kunitz domain 1) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Structural analysis |
Target domain |
247-301 (Kunitz domain 1) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
References
- Liu M et al. (2017) "The crystal structure of a multidomain protease inhibitor (HAI-1) reveals the mechanism of its auto-inhibition", The Journal of biological chemistry, 292, 8412-8423
- Kojima K et al. (2008) "Roles of functional and structural domains of hepatocyte growth factor activator inhibitor type 1 in the inhibition of matriptase", The Journal of biological chemistry, 283, 2478-87
Autoinhibited structure
Activated structure
8 structures for O43278
503 variants for O43278
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7486209 rs757578578 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391773311 rs1309729115 |
4 | A>G | No |
ClinGen TOPMed |
|
|
rs1366252727 CA391773327 |
7 | M>V | No |
ClinGen TOPMed |
|
|
CA7486211 rs750538694 |
8 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7486212 rs758400991 |
9 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1347184248 CA391773350 |
10 | A>V | No |
ClinGen gnomAD |
|
|
rs1006193719 CA268864497 |
11 | R>H | No |
ClinGen Ensembl |
|
|
rs1338870753 CA391773358 |
12 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781566038 CA391773362 |
13 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486216 rs781566038 COSM347416 |
13 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781566038 CA7486217 |
13 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770584218 CA7486218 |
13 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199768768 CA7486221 |
14 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1016377118 CA268864507 |
14 | P>S | No |
ClinGen TOPMed |
|
|
CA391773371 rs1432567403 |
15 | A>S | No |
ClinGen TOPMed |
|
|
CA7486222 rs775539622 |
15 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262257578 CA391773377 |
16 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs753701598 CA7486225 |
23 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7486226 rs367826054 |
23 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA268864515 rs972568582 |
23 | W>R | No |
ClinGen Ensembl |
|
|
rs1410186008 CA391773444 |
25 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1217105298 CA391773511 |
30 | L>P | No |
ClinGen TOPMed |
|
|
rs1277572801 CA391773520 |
31 | Q>* | No |
ClinGen TOPMed |
|
|
CA7486229 rs758550828 |
31 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391773535 rs1407164479 |
32 | G>S | No |
ClinGen gnomAD |
|
|
rs1235771212 CA391773557 |
34 | Q>* | No |
ClinGen TOPMed |
|
| COSM4414038 | 35 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs779964722 CA7486230 |
35 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751615505 CA7486231 |
37 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486232 rs755497485 |
38 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1284847773 CA391773617 |
39 | P>H | No |
ClinGen gnomAD |
|
|
CA7486234 rs748516131 |
39 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA391773623 rs1380207086 |
40 | A>T | No |
ClinGen TOPMed |
|
|
rs971251491 CA268864524 |
40 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391773634 rs1269283428 |
41 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1269283428 CA391773633 |
41 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA268864529 rs770138846 |
41 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486235 rs770138846 |
41 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486237 rs745480373 |
42 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7486236 rs201697101 |
42 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486238 rs11549914 |
45 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378707323 CA391773664 |
47 | G>E | No |
ClinGen gnomAD |
|
|
rs1426745923 CA391773690 |
49 | D>E | No |
ClinGen gnomAD |
|
|
rs760177902 CA7486240 |
50 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA391773707 rs1390437953 |
51 | L>M | No |
ClinGen gnomAD |
|
|
CA391773713 rs1385634579 |
51 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1337074458 CA391773766 |
55 | T>A | No |
ClinGen gnomAD |
|
|
rs376333579 CA7486243 |
56 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391773808 rs1596141989 |
58 | V>G | No |
ClinGen Ensembl |
|
|
CA391773799 rs1292288766 |
58 | V>L | No |
ClinGen gnomAD |
|
|
CA391773824 rs1355336314 |
60 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763112135 CA7486246 |
63 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1566851407 CA391773859 |
63 | L>V | No |
ClinGen Ensembl |
|
|
rs1438261115 CA391773870 |
64 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7486247 rs543267493 |
66 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1236384880 CA391773899 |
66 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1236384880 CA391773901 |
66 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs553670634 CA7486251 |
70 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756511656 CA7486252 |
71 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7486253 rs750002104 |
72 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273343620 CA391773993 |
73 | A>G | No |
ClinGen TOPMed |
|
|
rs749617310 CA7486254 |
73 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs914334103 CA268864561 |
74 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1596142098 CA391773999 |
74 | T>N | No |
ClinGen Ensembl |
|
|
rs376170333 CA268864563 |
77 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA391774057 rs1395178446 |
78 | S>F | No |
ClinGen TOPMed |
|
|
CA391774054 rs1395178446 |
78 | S>Y | No |
ClinGen TOPMed |
|
|
CA7486257 rs746570646 |
79 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA391774085 CA7486259 rs776753954 |
81 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA268864565 rs373463208 |
82 | R>H | No |
ClinGen ESP |
|
|
rs200486135 CA7486260 |
83 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391774105 rs1479061506 |
83 | R>W | No |
ClinGen gnomAD |
|
|
CA391774111 rs1204615616 |
84 | G>S | No |
ClinGen gnomAD |
|
|
rs769812130 CA7486261 |
86 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772902109 CA7486262 |
89 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7486263 rs145578767 |
89 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145578767 CA7486264 |
89 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138089109 CA7486265 |
90 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759670416 CA7486266 |
92 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7486267 rs142567105 |
94 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756638082 CA7486269 |
95 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486270 rs764606165 |
96 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486272 rs757639019 |
99 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1340863197 CA391774240 |
100 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779633506 CA7486273 |
101 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486274 rs746642409 |
102 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7486276 rs780877965 |
103 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486275 rs199965511 |
103 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA268864592 rs199965511 |
103 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232334104 CA391774260 |
104 | L>P | No |
ClinGen TOPMed |
|
|
CA391774272 rs1332374071 |
106 | P>S | No |
ClinGen TOPMed |
|
|
rs770574048 CA268864600 |
108 | R>C | No |
ClinGen gnomAD |
|
|
rs770574048 CA391774285 |
108 | R>G | No |
ClinGen gnomAD |
|
|
CA391774289 rs1207097520 |
109 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7486277 rs747611192 |
110 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268864604 rs565266707 |
110 | E>V | No |
ClinGen 1000Genomes |
|
|
CA391774301 rs1488163715 |
111 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA268864611 rs111695130 |
114 | A>T | No |
ClinGen 1000Genomes |
|
|
CA391774326 rs1432098547 |
114 | A>V | No |
ClinGen gnomAD |
|
|
CA391774338 rs1481028791 |
116 | C>F | No |
ClinGen gnomAD |
|
|
CA391774333 rs1342912038 |
116 | C>S | No |
ClinGen Ensembl |
|
|
rs1349871055 CA391774349 |
118 | L>I | No |
ClinGen TOPMed |
|
|
CA7486278 rs145999931 |
119 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391774355 rs145999931 |
119 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486279 rs544670776 |
120 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7486280 rs749103967 |
120 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486282 rs148755059 |
121 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486285 rs11549915 VAR_050065 |
123 | Y>C | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA7486284 rs759786834 |
123 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs759786834 CA7486283 |
123 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1347354027 CA391774393 |
125 | Q>K | No |
ClinGen gnomAD |
|
|
rs1387227696 CA391774398 |
125 | Q>L | No |
ClinGen gnomAD |
|
|
rs1387227696 CA391774397 |
125 | Q>R | No |
ClinGen gnomAD |
|
|
rs1300736551 CA391774408 |
126 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1277192181 CA7486286 CA391774415 |
127 | F>L | No |
ClinGen gnomAD |
|
|
rs1373327615 CA391774418 |
128 | V>L | No |
ClinGen gnomAD |
|
|
rs760684271 CA7486288 |
131 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA391774450 rs1241524589 |
132 | A>V | No |
ClinGen gnomAD |
|
|
rs754360257 CA7486290 |
135 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1353181588 CA391774464 |
135 | E>K | No |
ClinGen gnomAD |
|
|
rs1214949622 CA391774469 |
135 | E>V | No |
ClinGen gnomAD |
|
|
rs762138463 CA7486291 |
136 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA268864625 rs368898985 |
138 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368898985 CA7486292 |
138 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486293 rs373492914 |
139 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486294 rs754696591 |
139 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373492914 CA391774490 |
139 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391774496 rs1160583746 |
140 | Y>H | No |
ClinGen gnomAD |
|
|
rs144779474 CA268864631 |
141 | L>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA391774512 rs12323939 |
142 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_050066 CA7486296 rs12323939 |
142 | T>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1250666900 CA391774516 |
143 | R>T | No |
ClinGen TOPMed |
|
|
rs755644673 CA391774532 |
145 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755644673 CA7486297 |
145 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs200164851 CA7486300 |
146 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391774540 rs1466907250 |
147 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 147 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372434962 CA7486301 |
149 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391774561 rs1393226605 |
150 | R>C | No |
ClinGen gnomAD |
|
|
CA268864637 rs913937036 |
150 | R>L | No |
ClinGen TOPMed |
|
|
rs376462674 CA7486303 |
151 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745605901 CA7486302 |
151 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1322693257 CA391774588 |
155 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs905116590 CA268864643 |
159 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201206539 CA7486319 |
160 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA269587901 rs778081820 |
163 | P>S | No |
ClinGen Ensembl |
|
|
rs1012211965 CA269587910 |
165 | A>G | No |
ClinGen TOPMed |
|
|
CA7486321 rs139263716 |
165 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7486322 rs139263716 |
165 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA269587915 rs1012211965 |
165 | A>V | No |
ClinGen TOPMed |
|
|
rs780307229 CA7486323 |
166 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs747228024 CA7486324 |
167 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7486325 rs768716685 |
167 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769976576 CA269587932 |
168 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7486326 rs377397915 |
168 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA269587938 rs978576098 |
170 | D>G | No |
ClinGen Ensembl |
|
|
rs368407939 CA269587941 |
172 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486329 rs372353456 |
173 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375870778 CA269587945 |
174 | Q>K | No |
ClinGen Ensembl |
|
|
rs1031525708 CA269587948 |
175 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA391775573 rs1353389800 |
176 | Q>H | No |
ClinGen gnomAD |
|
| COSM3815988 | 177 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7486333 rs775321975 |
179 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7486334 rs760398562 |
180 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391775647 rs1566856033 |
183 | D>N | No |
ClinGen Ensembl |
|
|
rs753395243 CA7486336 |
184 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1400324017 CA391775698 |
187 | T>A | No |
ClinGen TOPMed |
|
|
CA7486337 rs756719173 |
187 | T>I | No |
ClinGen ExAC gnomAD |
|
| COSM1478088 | 188 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1414158103 CA391775748 |
190 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA391775749 COSM6001500 rs1171746024 |
190 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
rs750341676 CA7486339 |
192 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7486341 rs371597596 |
193 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746728134 CA7486342 |
193 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371597596 CA7486340 |
193 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240515694 CA391775782 |
194 | G>S | No |
ClinGen TOPMed |
|
|
rs1297899234 CA391775795 |
195 | D>N | No |
ClinGen gnomAD |
|
|
CA7486343 rs755237849 |
196 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269588033 rs755237849 |
196 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552741060 CA7486345 |
199 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7486346 rs769979852 |
199 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs773904695 CA7486347 |
201 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7486375 rs377422901 |
202 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772725757 CA7486377 |
205 | P>S | No |
ClinGen ExAC |
|
|
CA391775930 rs1378957883 |
207 | Q>R | No |
ClinGen TOPMed |
|
|
CA391775943 rs1440600263 |
209 | E>A | No |
ClinGen gnomAD |
|
|
rs1311596027 CA391775940 |
209 | E>K | No |
ClinGen TOPMed |
|
|
rs762387274 CA7486378 |
211 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486379 rs766409945 |
212 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7486380 rs751441702 |
213 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7486381 rs759426202 |
215 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596151881 CA391775994 |
217 | T>P | No |
ClinGen Ensembl |
|
|
CA391776009 rs1308053710 |
219 | L>P | No |
ClinGen gnomAD |
|
| COSM76570 | 221 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1350885614 CA391776037 |
223 | T>I | No |
ClinGen TOPMed |
|
|
rs756418054 CA7486384 |
224 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA391776053 rs1355582149 |
226 | S>T | No |
ClinGen gnomAD |
|
|
CA7486386 rs778073739 |
227 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM699913 | 228 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs754036462 CA7486387 |
228 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382635016 CA391776079 |
230 | P>Q | No |
ClinGen TOPMed |
|
|
rs757397930 CA7486388 |
230 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746327235 CA7486390 |
232 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA7486389 rs779520487 |
232 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772588036 CA7486391 |
233 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM470589 CA7486392 rs538124649 |
233 | T>M | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1364521471 CA391776103 |
234 | A>D | No |
ClinGen Ensembl |
|
|
CA391776112 rs200268560 |
235 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772850260 CA7486395 |
236 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772850260 CA7486396 |
236 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770327461 CA7486397 |
237 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7486398 rs774388624 |
240 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269588389 rs774388624 |
240 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391776152 rs1397366499 |
243 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1299261691 CA391776157 |
244 | K>E | No |
ClinGen TOPMed |
|
|
CA7486400 rs74819355 |
244 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7486402 rs149720019 |
245 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369178359 CA7486403 |
245 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486404 rs369178359 |
245 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269588405 rs923204300 |
246 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391776177 rs1318427111 |
247 | E>V | No |
ClinGen gnomAD |
|
|
rs1434412416 CA391776217 |
251 | L>V | No |
ClinGen gnomAD |
|
|
rs991849848 CA391776225 |
252 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7486432 rs570806857 |
252 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA269588555 rs991849848 |
252 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756874290 CA7486433 |
255 | K>N | No |
ClinGen ExAC |
|
|
CA391776244 rs1197039651 |
255 | K>T | No |
ClinGen TOPMed |
|
|
CA7486434 rs778623056 |
258 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7486435 rs149068458 |
258 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344928781 CA391776273 |
260 | R>Q | No |
ClinGen gnomAD |
|
|
CA7486436 rs771587233 |
260 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775606275 CA391776279 |
261 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775606275 CA7486437 |
261 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486439 rs768662239 |
262 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328655966 CA391776295 |
264 | P>A | No |
ClinGen TOPMed |
|
|
COSM4878635 rs779767066 CA7486440 |
265 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA269588605 rs948190794 |
265 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761598510 CA7486441 |
270 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs761598510 CA7486442 |
270 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761598510 CA7486443 |
270 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs202037909 CA269588628 |
271 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7486444 rs202037909 |
271 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391776345 rs1566856653 |
272 | E>Q | No |
ClinGen Ensembl |
|
|
CA7486447 rs760060715 |
276 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs143067716 CA7486448 |
278 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753069864 CA7486450 |
278 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391776393 rs1267762785 |
278 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs151160609 CA7486451 |
279 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391776404 rs1237671538 |
280 | Y>C | No |
ClinGen TOPMed |
|
|
rs201712230 CA7486452 |
280 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391776411 rs1438863961 |
281 | G>E | No |
ClinGen gnomAD |
|
|
CA391776410 rs1380749511 |
281 | G>R | No |
ClinGen gnomAD |
|
|
CA391776431 rs1156581818 |
284 | L>W | No |
ClinGen gnomAD |
|
|
rs779730861 CA7486454 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA269588701 rs891114031 |
286 | N>K | No |
ClinGen Ensembl |
|
|
rs1459262501 CA391776467 |
289 | N>S | No |
ClinGen TOPMed |
|
|
CA269588709 rs914376317 |
290 | Y>H | No |
ClinGen TOPMed |
|
|
CA391776473 rs1596152502 |
290 | Y>S | No |
ClinGen Ensembl |
|
|
rs768715360 CA7486456 |
291 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747956197 CA7486458 |
292 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486457 rs371706199 |
292 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7486459 rs368703966 |
294 | E>G | No |
ClinGen ESP ExAC |
|
|
rs1376351531 CA391776507 |
295 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1596152555 CA391776511 |
296 | C>G | No |
ClinGen Ensembl |
|
|
CA391776530 rs1222456355 |
299 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7486461 rs763268606 |
301 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773349518 CA7486460 |
301 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774428982 CA7486463 |
302 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771095345 CA7486462 |
302 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774428982 CA7486464 |
302 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486465 rs768069377 |
303 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7486466 rs768069377 |
303 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760983795 CA7486467 |
304 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764549083 CA7486468 |
305 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs764549083 CA391776563 |
305 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs146565021 CA7486469 |
306 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758134493 CA7486470 |
307 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1596152667 CA391776605 |
311 | S>R | No |
ClinGen Ensembl |
|
|
rs1415664071 CA391776607 |
312 | S>P | No |
ClinGen gnomAD |
|
|
rs779781919 CA7486471 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs145193299 CA269588837 |
316 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145193299 COSM2152382 CA7486472 |
316 | A>V | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7486474 rs1555388755 |
317 | T>I | No |
ClinGen Ensembl |
|
|
rs781044211 CA7486476 |
319 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7486477 rs748090236 |
320 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA391776657 rs1440265846 |
320 | Q>R | No |
ClinGen gnomAD |
|
| COSM1372718 | 320 | Q>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1194299039 CA391776725 |
321 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA391776663 rs1305005814 |
321 | G>S | No |
ClinGen gnomAD |
|
|
CA7486500 rs372963829 |
322 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391776740 rs372963829 |
322 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391776747 rs1402737929 |
323 | S>Y | No |
ClinGen Ensembl |
|
|
CA7486501 rs779145941 |
324 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1219498539 CA391776780 |
325 | E>V | No |
ClinGen TOPMed |
|
|
rs1426173045 CA391776794 |
326 | R>M | No |
ClinGen gnomAD |
|
|
CA391776796 rs1289164125 |
326 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7486502 rs376143378 |
327 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3969092 CA7486503 rs138167951 |
327 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1566856961 CA391776834 |
329 | P>R | No |
ClinGen Ensembl |
|
|
CA269589441 rs1048458820 |
331 | C>R | No |
ClinGen Ensembl |
|
|
CA269589451 rs909050116 |
332 | S>P | No |
ClinGen Ensembl |
|
|
CA7486531 rs763163082 |
336 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
VAR_050067 CA7486532 RCV000969292 rs7165897 |
337 | P>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1596153427 CA391777065 |
338 | T>P | No |
ClinGen Ensembl |
|
|
CA7486533 rs774993708 |
339 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA269589477 rs1036238841 |
339 | Q>L | No |
ClinGen Ensembl |
|
|
CA7486534 rs201483554 |
341 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548395522 CA7486535 |
341 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA269589494 rs548395522 |
341 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753293935 CA7486536 |
344 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs368950895 CA7486537 |
344 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369534728 CA7486538 |
345 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486539 rs750282603 |
348 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | D>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751704058 CA7486542 |
349 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA7486541 rs780369905 |
349 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138578385 CA7486543 |
350 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7486544 rs534071249 |
351 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA269589541 rs1001036455 |
353 | E>D | No |
ClinGen Ensembl |
|
|
CA391777165 rs1596153548 |
353 | E>G | No |
ClinGen Ensembl |
|
|
CA269589536 rs904844423 |
353 | E>Q | No |
ClinGen Ensembl |
|
|
rs748183999 CA7486545 |
354 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA391777169 rs748183999 |
354 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7486547 rs770430430 COSM2153993 |
355 | D>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA269589556 rs1032069470 |
355 | D>G | No |
ClinGen TOPMed |
|
|
rs1333985843 CA391777187 |
356 | D>E | No |
ClinGen gnomAD |
|
|
rs149291015 CA7486548 |
356 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596153589 CA391777188 |
357 | T>P | No |
ClinGen Ensembl |
|
|
CA7486550 rs774735884 |
359 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774735884 CA7486551 |
359 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391777206 rs1318923792 |
360 | C>S | No |
ClinGen gnomAD |
|
| COSM3500962 | 362 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7486553 rs553814273 |
362 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7486555 rs200901498 |
363 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1285555339 CA391777230 |
363 | A>V | No |
ClinGen Ensembl |
|
|
CA7486556 rs372720759 |
365 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199651027 CA7486558 |
366 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1372719 CA7486560 rs751324782 |
368 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| COSM3500963 | 370 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1372720 | 371 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA7486562 rs755173095 |
372 | Y>H | No |
ClinGen ExAC |
|
|
rs147244113 CA7486584 |
372 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486585 rs199960318 |
373 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199960318 CA7486586 |
373 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs758738308 CA7486588 |
374 | S>N | No |
ClinGen ExAC gnomAD |
|
| COSM699912 | 375 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs780859371 CA7486589 |
375 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486590 rs141062061 |
377 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144910384 CA7486592 |
378 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391777350 rs1453039977 |
380 | Q>* | No |
ClinGen gnomAD |
|
|
CA391777356 rs1394041787 |
380 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA391777353 rs1193865717 |
380 | Q>R | No |
ClinGen gnomAD |
|
|
rs558841618 CA7486593 |
381 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs115016208 RCV000886923 CA7486594 |
381 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7486596 rs759454528 |
383 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1452944703 CA391777370 |
383 | H>Y | No |
ClinGen gnomAD |
|
|
rs760988634 CA7486599 |
389 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7486618 rs776885776 |
390 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs139286505 CA7486617 |
390 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391777444 rs761836216 |
392 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486619 rs761836216 |
392 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596155309 CA391777452 |
393 | D>A | No |
ClinGen Ensembl |
|
|
rs145514521 CA391777480 |
397 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145514521 CA269591102 |
397 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145514521 CA391777479 |
397 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1179919570 CA391777485 |
398 | G>A | No |
ClinGen TOPMed |
|
|
rs1467441518 CA391777483 |
398 | G>R | No |
ClinGen gnomAD |
|
|
CA391777492 rs1596155334 |
399 | L>P | No |
ClinGen Ensembl |
|
|
CA391777506 rs1421288406 |
401 | K>R | No |
ClinGen TOPMed |
|
|
rs142750993 CA7486624 |
405 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM3500965 | 405 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs777340322 CA7486626 |
406 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA391777539 rs1358454566 COSM1227385 |
406 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA391777561 rs1466371854 |
409 | Y>D | No |
ClinGen gnomAD |
|
|
CA391777560 rs1466371854 |
409 | Y>H | No |
ClinGen gnomAD |
|
|
CA391777573 rs1349312861 |
410 | N>K | No |
ClinGen TOPMed |
|
|
CA391777571 rs1304303854 |
410 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1277452231 CA391777579 |
411 | P>L | No |
ClinGen TOPMed |
|
|
rs756821220 CA7486628 |
413 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745308738 CA7486630 |
414 | E>* | No |
ClinGen ExAC gnomAD |
|
|
COSM3886921 CA7486631 rs745308738 |
414 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA391777608 rs1202213552 |
415 | H>Q | No |
ClinGen gnomAD |
|
|
rs780125788 CA7486632 |
415 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282171170 CA391777612 |
416 | C>Y | No |
ClinGen gnomAD |
|
|
CA7486634 rs546841557 |
417 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486635 rs546841557 |
417 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255246317 CA391777623 |
418 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1255246317 CA391777622 |
418 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs147386305 CA7486636 |
418 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7486637 rs147386305 |
418 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391777629 rs1187142658 |
419 | F>S | No |
ClinGen gnomAD |
|
|
rs1419100448 CA391777646 |
421 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | C>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391777662 rs1376436492 |
424 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1364769416 CA391777675 |
426 | G>C | No |
ClinGen TOPMed |
|
|
rs766934158 CA7486640 |
428 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 430 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7486642 rs377395500 |
431 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391777722 rs1212408405 |
432 | E>A | No |
ClinGen gnomAD |
|
|
rs767957785 CA391777728 |
433 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767957785 CA7486643 |
433 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369498136 CA7486644 |
434 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140303340 CA391777739 |
434 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348309005 CA391777734 |
434 | E>K | No |
ClinGen gnomAD |
|
|
CA391777741 rs1448611637 |
435 | Q>* | No |
ClinGen gnomAD |
|
|
CA7486646 rs778702999 |
436 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206560907 CA391777761 |
437 | C>F | No |
ClinGen TOPMed |
|
|
rs184233395 CA7486648 |
439 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7486650 rs746995222 |
440 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs138242530 CA7486649 |
440 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201870536 CA7486652 COSM961310 |
442 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747835032 CA7486654 |
442 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs747835032 CA7486653 |
442 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs116845898 CA7486656 |
443 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1428284106 CA391777811 |
446 | K>E | No |
ClinGen gnomAD |
|
|
CA391777826 rs1275112975 |
446 | K>R | No |
ClinGen TOPMed |
|
|
CA391777844 rs1273870095 |
448 | D>E | No |
ClinGen gnomAD |
|
|
CA391777838 rs1418820560 |
448 | D>N | No |
ClinGen gnomAD |
|
|
rs539867813 CA7486671 |
449 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1323223 | 451 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391777859 rs1212054933 |
451 | G>S | No |
ClinGen gnomAD |
|
|
CA269591646 rs1052568704 |
452 | L>P | No |
ClinGen TOPMed |
|
|
CA391777868 rs1052568704 |
452 | L>R | No |
ClinGen TOPMed |
|
|
CA7486675 rs200944233 |
454 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7486673 rs368525506 |
454 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA269591668 rs933416959 |
455 | E>K | No |
ClinGen Ensembl |
|
|
CA7486676 rs545141233 |
457 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7486677 rs545141233 |
457 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM136996 rs1024527836 CA269591676 |
457 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7486678 rs775838328 |
459 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA7486680 rs73400524 |
460 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761140852 CA7486679 |
460 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1417941985 CA391777912 |
460 | S>R | No |
ClinGen gnomAD |
|
|
rs752203791 CA7486704 |
462 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs113483685 CA391777951 |
465 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA269592151 rs113483685 |
465 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs142969118 CA7486706 |
465 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1327286562 CA391777961 |
466 | M>I | No |
ClinGen gnomAD |
|
|
rs753688491 CA7486707 |
467 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753688491 CA391777964 |
467 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7486708 rs757022193 |
467 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7486709 rs375785043 |
468 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486712 rs142240169 |
469 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000954289 CA7486711 rs142240169 |
469 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA391777980 rs747016519 |
470 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747016519 CA7486713 |
470 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781761957 CA7486715 |
472 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7486716 rs369798368 |
474 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA269592204 rs754310070 |
476 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391778015 rs754310070 |
476 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148573816 CA269592208 |
478 | V>L | No |
ClinGen ESP |
|
|
CA391778034 rs1160435671 |
479 | V>A | No |
ClinGen gnomAD |
|
|
CA7486720 rs150664806 |
479 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771699340 CA7486721 |
481 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760163087 CA7486723 |
484 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1373414294 CA391778065 |
484 | G>V | No |
ClinGen gnomAD |
|
|
CA7486725 rs376446817 |
485 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764066951 CA7486724 |
485 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192881492 CA391778075 |
486 | C>Y | No |
ClinGen gnomAD |
|
|
rs761698281 CA7486726 |
487 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA269592264 rs1034080691 |
490 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1351092889 CA391778120 |
492 | R>K | No |
ClinGen TOPMed |
|
|
CA7486727 rs764959864 |
494 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269592281 rs866655707 |
497 | G>R | No |
ClinGen TOPMed |
|
|
CA7486730 rs758550476 |
498 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA391778171 rs1596156841 |
499 | H>P | No |
ClinGen Ensembl |
|
|
rs751749451 CA7486732 |
501 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA391778190 rs1431424675 |
501 | H>Q | No |
ClinGen gnomAD |
|
|
CA7486733 rs755087916 |
502 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391778192 rs1322356894 |
502 | P>T | No |
ClinGen gnomAD |
|
|
CA7486735 rs748696756 |
503 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781774831 CA7486734 |
503 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202094724 CA269592329 |
504 | P>R | No |
ClinGen Ensembl |
|
|
CA391778202 rs1397024769 |
504 | P>S | No |
ClinGen gnomAD |
|
|
rs756598621 CA7486736 |
505 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA391778221 rs1325736878 |
507 | A>V | No |
ClinGen gnomAD |
|
| COSM1372721 | 509 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA391778241 rs1180030271 |
510 | T>I | No |
ClinGen TOPMed |
|
|
CA7486738 rs139238995 |
511 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7486739 rs749602451 |
512 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA391778257 rs1335647091 |
513 | T>I | No |
ClinGen gnomAD |
|
|
rs775099101 CA7486741 |
514 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1336577292 CA391778263 |
515 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7486743 rs768181887 |
516 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7486745 rs761668755 |
517 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772946138 CA7486747 |
518 | E>G | No |
ClinGen ExAC gnomAD |
|
| COSM4830016 | 518 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1418412958 CA391778298 |
520 | L>V | No |
ClinGen gnomAD |
|
|
CA7486748 rs762797799 |
526 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs377450581 CA391778346 |
527 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7486751 rs377450581 |
527 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA7486750 rs751802448 |
527 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7486752 rs767732170 |
528 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1030760035 CA269592419 |
528 | P>S | No |
ClinGen Ensembl |
|
|
CA7486753 rs752770933 |
529 | L>R | No |
ClinGen ExAC gnomAD |
No associated diseases with O43278
No regional properties for O43278
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O43278 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR46750 | KUNITZ-TYPE PROTEASE INHIBITOR 1 |
| PANTHER Subfamily | PTHR46750:SF1 | KUNITZ-TYPE PROTEASE INHIBITOR 1 |
| PANTHER Protein Class | protease inhibitor | |
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| 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 and attached to it. |
| 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 |
|---|---|
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of a serine-type endopeptidase. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| branching involved in labyrinthine layer morphogenesis | The process in which the branches of the fetal placental villi are generated and organized. The villous part of the placenta is called the labyrinth layer. |
| cellular response to BMP stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bone morphogenetic protein (BMP) stimulus. |
| epidermis development | The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| epithelium development | The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| negative regulation of neural precursor cell proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of neural precursor cell proliferation. |
| negative regulation of peptidase activity | Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| placenta blood vessel development | The process whose specific outcome is the progression of a blood vessel of the placenta over time, from its formation to the mature structure. |
| positive regulation of glial cell differentiation | Any process that activates or increases the frequency, rate or extent of glia cell differentiation. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7YRQ8 | TFPI2 | Tissue factor pathway inhibitor 2 | Bos taurus (Bovine) | SS |
| Q868Z9 | Ppn | Papilin | Drosophila melanogaster (Fruit fly) | SS |
| M9PE65 | axo | Axotactin | Drosophila melanogaster (Fruit fly) | SS |
| P49223 | SPINT3 | Kunitz-type protease inhibitor 3 | Homo sapiens (Human) | SS |
| P48307 | TFPI2 | Tissue factor pathway inhibitor 2 | Homo sapiens (Human) | SS |
| P10646 | TFPI | Tissue factor pathway inhibitor | Homo sapiens (Human) | SS |
| O43291 | SPINT2 | Kunitz-type protease inhibitor 2 | Homo sapiens (Human) | EV |
| O35536 | Tfpi2 | Tissue factor pathway inhibitor 2 | Mus musculus (Mouse) | SS |
| Q9WU03 | Spint2 | Kunitz-type protease inhibitor 2 | Mus musculus (Mouse) | SS |
| O54819 | Tfpi | Tissue factor pathway inhibitor | Mus musculus (Mouse) | SS |
| Q9R097 | Spint1 | Kunitz-type protease inhibitor 1 | Mus musculus (Mouse) | SS |
| Q02445 | Tfpi | Tissue factor pathway inhibitor | Rattus norvegicus (Rat) | SS |
| Q28864 | TFPI | Tissue factor pathway inhibitor | Macaca mulatta (Rhesus macaque) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPARTMARA | RLAPAGIPAV | ALWLLCTLGL | QGTQAGPPPA | PPGLPAGADC | LNSFTAGVPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FVLDTNASVS | NGATFLESPT | VRRGWDCVRA | CCTTQNCNLA | LVELQPDRGE | DAIAACFLIN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CLYEQNFVCK | FAPREGFINY | LTREVYRSYR | QLRTQGFGGS | GIPKAWAGID | LKVQPQEPLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LKDVENTDWR | LLRGDTDVRV | ERKDPNQVEL | WGLKEGTYLF | QLTVTSSDHP | EDTANVTVTV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSTKQTEDYC | LASNKVGRCR | GSFPRWYYDP | TEQICKSFVY | GGCLGNKNNY | LREEECILAC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RGVQGGPLRG | SSGAQATFPQ | GPSMERRHPV | CSGTCQPTQF | RCSNGCCIDS | FLECDDTPNC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PDASDEAACE | KYTSGFDELQ | RIHFPSDKGH | CVDLPDTGLC | KESIPRWYYN | PFSEHCARFT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YGGCYGNKNN | FEEEQQCLES | CRGISKKDVF | GLRREIPIPS | TGSVEMAVAV | FLVICIVVVV |
| 490 | 500 | 510 | 520 | ||
| AILGYCFFKN | QRKDFHGHHH | HPPPTPASST | VSTTEDTEHL | VYNHTTRPL |