Q96HF1
Gene name |
SFRP2 (FRP2, SARP1, FKSG12, UNQ361/PRO697) |
Protein name |
Secreted frizzled-related protein 2 |
Names |
FRP-2, sFRP-2, Secreted apoptosis-related protein 1, SARP-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6423 |
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 Q96HF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96HF1-F1 | Predicted | AlphaFoldDB |
214 variants for Q96HF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA071687 rs770485715 RCV000207374 |
209 | D>G | Anophthalmia-microphthalmia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767318221 CA358482901 |
2 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767318221 CA3111594 |
2 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339097251 CA358482866 |
4 | G>D | No |
ClinGen TOPMed |
|
|
CA358482863 rs1339097251 |
4 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 5 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762120819 CA3111589 |
7 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358482776 rs1373042834 |
10 | L>P | No |
ClinGen gnomAD |
|
|
rs1323829313 CA358482770 |
11 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1323829313 CA358482768 |
11 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358482743 rs1265091323 |
12 | F>L | No |
ClinGen TOPMed |
|
|
rs376390256 CA108696795 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358482715 rs1171982836 |
14 | A>V | No |
ClinGen gnomAD |
|
|
CA3111583 rs772407898 |
16 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358482667 rs1455008597 |
17 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA358482664 rs1455008597 |
17 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3111582 rs144496209 |
18 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA108696776 rs977206372 |
19 | L>P | No |
ClinGen Ensembl |
|
|
rs977206372 CA358482637 |
19 | L>R | No |
ClinGen Ensembl |
|
|
CA358482625 rs1206787522 |
20 | G>D | No |
ClinGen gnomAD |
|
|
CA358482631 rs1233522473 |
20 | G>R | No |
ClinGen gnomAD |
|
|
CA358482629 rs1233522473 |
20 | G>S | No |
ClinGen gnomAD |
|
|
rs372453250 CA3111580 |
21 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748918381 CA3111579 |
22 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747851787 COSM1240163 CA3111576 |
23 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3111574 rs370321307 |
23 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3111575 rs370321307 |
23 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747851787 CA358482585 |
23 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA358482561 rs1374040117 |
24 | G>E | No |
ClinGen gnomAD |
|
|
rs1175322643 CA358482572 |
24 | G>R | No |
ClinGen TOPMed |
|
|
rs914770377 CA108696694 |
26 | F>L | No |
ClinGen Ensembl |
|
|
rs4076441 CA358482528 |
26 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA108696692 rs377498509 |
27 | L>V | No |
ClinGen ESP gnomAD |
|
|
rs779538599 CA108696685 |
29 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1029220340 CA108696680 |
29 | G>V | No |
ClinGen TOPMed |
|
|
CA3111570 rs754081413 |
30 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs144480119 CA3111569 |
31 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1172239100 CA358482461 |
31 | P>L | No |
ClinGen gnomAD |
|
|
COSM263616 rs1285226817 CA358482429 |
33 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3111567 rs752945147 |
34 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3111565 rs1553961455 |
35 | Y>C | No |
ClinGen Ensembl |
|
|
rs1324425816 CA358482405 |
35 | Y>H | No |
ClinGen TOPMed |
|
|
rs1256791588 CA358482366 |
37 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759948174 CA3111563 |
37 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3111562 rs369290690 |
38 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211825906 CA358482324 |
39 | N>H | No |
ClinGen gnomAD |
|
|
CA358482213 rs1232273632 |
44 | P>T | No |
ClinGen gnomAD |
|
|
CA3111559 VAR_051963 rs4643790 |
45 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs386680891 CA108696619 |
45 | A>V | No |
ClinGen Ensembl |
|
|
rs1221529302 CA358482169 |
46 | N>K | No |
ClinGen gnomAD |
|
|
CA358482069 rs1270382627 |
54 | E>K | No |
ClinGen TOPMed |
|
|
rs1579132027 CA358482040 |
55 | Y>* | No |
ClinGen Ensembl |
|
|
rs1313004211 CA358482048 |
55 | Y>H | No |
ClinGen gnomAD |
|
|
CA358481994 rs1480499370 |
58 | M>V | No |
ClinGen TOPMed |
|
|
CA3111555 rs768693726 |
59 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746895350 CA3111554 |
59 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579131990 CA358481959 |
61 | P>A | No |
ClinGen Ensembl |
|
|
rs1346255421 CA358481952 |
61 | P>H | No |
ClinGen gnomAD |
|
|
rs1579131985 CA358481945 |
62 | N>H | No |
ClinGen Ensembl |
|
|
CA358481933 rs779169377 |
62 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358481893 rs1428327342 |
65 | G>R | No |
ClinGen TOPMed |
|
|
rs1476274432 CA358481885 |
65 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3111547 rs767751716 |
66 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753164723 CA3111548 |
66 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760130726 CA3111546 |
67 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1048233435 CA108696537 |
68 | T>N | No |
ClinGen Ensembl |
|
|
rs752091964 CA3111545 |
69 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1579131925 CA358481757 |
72 | V>G | No |
ClinGen Ensembl |
|
|
rs772645804 CA3111542 |
73 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556787764 CA3111541 |
77 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761355765 CA3111540 |
78 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA358481679 rs761355765 |
78 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358481658 COSM126920 rs1391282818 |
79 | W>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1456096804 CA358481664 |
79 | W>R | No |
ClinGen gnomAD |
|
|
CA3111538 rs768299995 |
80 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3111539 rs776535023 |
80 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3111535 rs772075948 |
83 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3111536 rs772075948 |
83 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202897391 CA358481593 |
84 | M>V | No |
ClinGen TOPMed |
|
|
CA358481563 rs1293941621 |
85 | K>R | No |
ClinGen TOPMed |
|
|
rs767842776 CA108696494 |
89 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3111532 rs756408557 |
90 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA108696486 rs913805619 |
91 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1273745312 CA358481403 |
93 | K>N | No |
ClinGen gnomAD |
|
|
CA358481380 rs1429884682 |
95 | L>Q | No |
ClinGen TOPMed |
|
|
rs1389907923 CA358481258 |
99 | F>L | No |
ClinGen TOPMed |
|
|
CA108696480 rs928317938 |
99 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA358481289 rs928317938 |
99 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1041389056 CA108696472 |
100 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1366672257 CA358481182 |
102 | V>I | No |
ClinGen TOPMed |
|
|
CA108696438 rs1035127970 |
105 | D>N | No |
ClinGen TOPMed |
|
|
rs758904161 CA3111525 |
106 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA108696433 rs1002309285 |
107 | L>I | No |
ClinGen TOPMed |
|
|
CA358481031 rs1327186201 |
108 | D>H | No |
ClinGen gnomAD |
|
|
CA3111523 rs764627420 |
109 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3111524 rs533800119 COSM350979 |
109 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1162814359 CA358480959 |
110 | T>I | No |
ClinGen gnomAD |
|
|
CA358480844 rs776175695 |
114 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA358480707 rs1405447492 |
119 | V>A | No |
ClinGen TOPMed |
|
|
CA3111518 rs775356830 |
119 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3111516 rs200416071 |
124 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs745780901 CA3111514 |
126 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773382763 CA3111513 |
128 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3111511 rs748210745 |
131 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3111510 rs781288672 |
133 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA358480472 rs781288672 |
133 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358480434 rs1579131699 |
136 | W>S | No |
ClinGen Ensembl |
|
|
rs1386284967 CA358480426 |
137 | P>T | No |
ClinGen TOPMed |
|
|
rs1237141458 CA358480404 |
138 | D>G | No |
ClinGen gnomAD |
|
|
CA3111508 rs747444264 |
138 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322908089 CA358480391 |
139 | M>T | No |
ClinGen gnomAD |
|
|
rs1211199779 CA358480396 |
139 | M>V | No |
ClinGen gnomAD |
|
|
CA358480382 rs1392041995 |
140 | L>I | No |
ClinGen gnomAD |
|
|
CA3111506 rs758949251 |
140 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1429393209 CA358480376 |
141 | E>Q | No |
ClinGen gnomAD |
|
|
CA358480367 rs1579131655 |
142 | C>G | No |
ClinGen Ensembl |
|
|
COSM3718643 CA3111503 rs376726694 |
144 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 147 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763657211 CA3111500 |
148 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1376999870 CA358480305 |
148 | D>N | No |
ClinGen gnomAD |
|
|
rs775477124 CA358480263 |
150 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3111499 rs374977998 |
150 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568751579 CA358480257 |
151 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568751579 CA3111497 |
151 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759366315 CA3111495 |
153 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274810088 CA358480198 |
155 | L>H | No |
ClinGen gnomAD |
|
|
rs199551756 CA3111490 |
156 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1286600673 CA358480177 |
157 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747207310 CA3111489 |
157 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs772454059 CA3111487 |
158 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs746191282 CA3111486 |
159 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1579131526 CA358480128 |
160 | H>P | No |
ClinGen Ensembl |
|
|
rs1401345215 CA358480114 |
161 | L>P | No |
ClinGen gnomAD |
|
|
CA358480090 rs1471143961 |
163 | P>L | No |
ClinGen gnomAD |
|
|
CA358480081 rs1180904088 |
164 | A>V | No |
ClinGen gnomAD |
|
|
CA3111483 rs753354046 |
166 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777406941 CA3111482 |
166 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3111461 rs377226693 |
168 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1432648460 CA358479748 |
171 | V>I | No |
ClinGen gnomAD |
|
|
rs1319836346 CA358479727 |
172 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956924570 CA108694392 |
175 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 177 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751372172 COSM3714722 CA358479616 |
180 | D>E | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3111458 rs754658364 |
180 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376506469 CA3111455 |
182 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376506469 CA3111456 |
182 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165285468 CA358479566 |
184 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1000842314 CA108694380 |
185 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358479555 rs1560811008 |
185 | I>V | No |
ClinGen Ensembl |
|
|
rs1188447113 CA358479537 |
186 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA358479539 rs1460149316 |
186 | M>T | No |
ClinGen TOPMed |
|
|
CA3111451 rs189204130 COSM3392740 |
188 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA358479452 rs1274022002 |
193 | D>G | No |
ClinGen gnomAD |
|
|
CA358479045 rs1218622791 |
200 | V>M | No |
ClinGen gnomAD |
|
|
CA108691615 rs1019463922 |
201 | K>N | No |
ClinGen TOPMed |
|
|
CA358479028 rs1560809804 |
202 | E>G | No |
ClinGen Ensembl |
|
|
rs767611732 CA3111426 |
206 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs759496190 CA3111425 |
207 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763381743 CA3111422 COSM1052272 |
208 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763381743 CA3111424 |
208 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773710868 CA3111421 |
208 | R>Q | No |
ClinGen ExAC |
|
|
rs1307742957 CA358478972 |
211 | K>T | No |
ClinGen gnomAD |
|
|
rs1174718399 CA358478959 |
213 | I>V | No |
ClinGen TOPMed |
|
|
rs1579127371 CA358478942 |
215 | E>D | No |
ClinGen Ensembl |
|
|
CA358478915 rs1560809786 |
219 | K>T | No |
ClinGen Ensembl |
|
|
rs1174550403 CA358478896 |
222 | Y>H | No |
ClinGen gnomAD |
|
|
rs746452136 CA3111416 |
229 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358478843 rs1334778619 |
230 | R>G | No |
ClinGen TOPMed |
|
|
rs1251397921 CA358478841 |
230 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1021032920 CA108691547 |
235 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA358478803 COSM117303 rs1021032920 |
235 | S>L | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA108691544 rs951340434 |
239 | L>F | No |
ClinGen Ensembl |
|
|
rs1209329846 CA358478747 |
243 | L>F | No |
ClinGen gnomAD |
|
|
CA3111413 rs745728569 |
250 | M>V | No |
ClinGen ExAC |
|
|
rs1226045936 CA358478674 |
252 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA358478676 COSM1162201 rs1269418288 |
252 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs995413065 CA108691542 |
254 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 254 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178577005 CA358478648 |
254 | N>T | No |
ClinGen Ensembl |
|
|
CA358478639 rs778665160 |
255 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778665160 COSM1225447 CA3111412 |
255 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1301528697 CA358478626 |
256 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3111410 rs753743362 |
257 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3111409 rs763890885 |
258 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358478578 rs1411385162 |
260 | M>T | No |
ClinGen gnomAD |
|
|
rs1455728690 CA358478583 |
260 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 261 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358478563 rs1165886589 |
261 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA358478510 rs1425847380 |
265 | G>D | No |
ClinGen gnomAD |
|
|
rs751527740 CA3111407 |
266 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766692048 CA3111406 |
267 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3111405 rs763257920 |
269 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174827923 CA358478453 |
270 | I>N | No |
ClinGen TOPMed |
|
|
rs773765944 CA3111404 |
272 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3111403 rs765668271 |
273 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1246532190 CA358478392 |
274 | K>E | No |
ClinGen gnomAD |
|
|
rs762231333 CA3111402 |
275 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777214656 CA3111401 |
279 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358478285 rs777214656 |
279 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395838329 CA358478277 |
280 | Q>* | No |
ClinGen gnomAD |
|
| rs1002871980 | 282 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3111400 rs768984513 |
285 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs760233107 CA3111399 |
285 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579127219 CA358478150 |
287 | S>P | No |
ClinGen Ensembl |
|
|
rs1163966443 CA358478134 |
288 | R>C | No |
ClinGen gnomAD |
|
|
rs1459585567 CA358478129 |
288 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM1664121 rs1459585567 CA358478125 |
288 | R>L | kidney prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM291429 CA3111397 rs774857018 |
291 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771814142 CA3111396 |
291 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186205421 CA358478069 |
292 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749026873 CA3111392 |
296 | C>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q96HF1
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase activator activity | Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. |
| fibronectin binding | Binding to a fibronectin, a group of related adhesive glycoproteins of high molecular weight found on the surface of animal cells, connective tissue matrices, and in extracellular fluids. |
| integrin binding | Binding to an integrin. |
| receptor ligand activity | The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). |
| Wnt-protein binding | Binding to a Wnt-protein, a secreted growth factor involved in signaling. |
57 GO annotations of biological process
| Name | Definition |
|---|---|
| BMP signaling pathway | The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| branching involved in blood vessel morphogenesis | The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system. |
| canonical Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
| cardiac left ventricle morphogenesis | The process in which the left cardiac ventricle is generated and organized. |
| cardiac muscle cell apoptotic process | A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a cardiac muscle cell and result in its death. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| cellular response to extracellular 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 an extracellular stimulus. |
| cellular response to X-ray | 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 X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). |
| chondrocyte development | The process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. |
| collagen fibril organization | Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. |
| convergent extension involved in axis elongation | The morphogenetic process in which an epithelium narrows along one axis and lengthens in a perpendicular axis contributing to the lengthening of the axis of an organism. |
| digestive tract morphogenesis | The process in which the anatomical structures of the digestive tract are generated and organized. The digestive tract is the anatomical structure through which food passes and is processed. |
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| hematopoietic stem cell proliferation | The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| mesodermal cell fate specification | The cell fate determination process in which a cell becomes capable of differentiating autonomously into a mesoderm cell in an environment that is neutral with respect to the developmental pathway; upon specification, the cell fate can be reversed. |
| negative regulation of BMP signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway. |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| negative regulation of cardiac muscle cell apoptotic process | Any process that decreases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process. |
| negative regulation of dermatome development | Any process that decreases the rate, frequency, or extent of the progression of the dermatome over time, from its initial formation to the mature structure. The dermatome is the portion of a somite that will form skin. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
| negative regulation of epithelial to mesenchymal transition | Any process that decreases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage | Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage. |
| negative regulation of JUN kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of JUN kinase activity. |
| negative regulation of mesodermal cell fate specification | Any process that stops, prevents, or reduces the frequency, rate or extent of mesoderm cell fate specification. |
| negative regulation of peptidyl-tyrosine phosphorylation | Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| negative regulation of planar cell polarity pathway involved in axis elongation | Any process that stops, prevents, or reduces the frequency, rate or extent of planar cell polarity pathway involved in axis elongation. |
| negative regulation of Wnt signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway. |
| outflow tract morphogenesis | The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries. |
| planar cell polarity pathway involved in axis elongation | The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal to modulate cytoskeletal elements and control cell polarity that contributes to axis elongation. |
| planar cell polarity pathway involved in neural tube closure | The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors that modulates the establishment of planar polarity contributing to neural tube closure. |
| positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of canonical Wnt signaling pathway | Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of cell adhesion mediated by integrin | Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of fat cell differentiation | Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| post-anal tail morphogenesis | The process in which a post-anal tail is generated and organized. A post-anal tail is a muscular region of the body that extends posterior to the anus. The post-anal tail may aid locomotion and balance. |
| regulation of midbrain dopaminergic neuron differentiation | Any process that modulates the frequency, rate or extent of midbrain dopaminergic neuron differentiation. |
| regulation of neuron projection development | Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| regulation of stem cell division | Any process that modulates the frequency, rate or extent of stem cell division. |
| response to nutrient | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| sclerotome development | The progression of the sclerotome over time, from its initial formation to the mature structure. The sclerotome is the portion of the somite that will give rise to a vertebra. |
| stem cell fate specification | The process in which a cell becomes capable of differentiating autonomously into a stem cell in an environment that is neutral with respect to the developmental pathway. Upon specification, the cell fate can be reversed. |
| Wnt signaling pathway involved in somitogenesis | The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state that contributes to somitogenesis. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O19116 | SFRP1 | Secreted frizzled-related protein 1 | Bos taurus (Bovine) | PR |
| Q9DEQ4 | SFRP1 | Secreted frizzled-related protein 1 | Gallus gallus (Chicken) | PR |
| O57328 | FZD1 | Frizzled-1 | Gallus gallus (Chicken) | PR |
| Q9IA96 | SFRP2 | Secreted frizzled-related protein 2 | Gallus gallus (Chicken) | PR |
| Q863H1 | SFRP2 | Secreted frizzled-related protein 2 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| O00144 | FZD9 | Frizzled-9 | Homo sapiens (Human) | PR |
| O75084 | FZD7 | Frizzled-7 | Homo sapiens (Human) | PR |
| Q14332 | FZD2 | Frizzled-2 | Homo sapiens (Human) | PR |
| Q6FHJ7 | SFRP4 | Secreted frizzled-related protein 4 | Homo sapiens (Human) | PR |
| Q8N474 | SFRP1 | Secreted frizzled-related protein 1 | Homo sapiens (Human) | PR |
| Q9ULW2 | FZD10 | Frizzled-10 | Homo sapiens (Human) | PR |
| Q9UP38 | FZD1 | Frizzled-1 | Homo sapiens (Human) | PR |
| O60353 | FZD6 | Frizzled-6 | Homo sapiens (Human) | PR |
| Q9Z1N6 | Sfrp4 | Secreted frizzled-related sequence protein 4 | Mus musculus (Mouse) | PR |
| O70421 | Fzd1 | Frizzled-1 | Mus musculus (Mouse) | PR |
| Q9JIP6 | Fzd2 | Frizzled-2 | Mus musculus (Mouse) | PR |
| Q61090 | Fzd7 | Frizzled-7 | Mus musculus (Mouse) | PR |
| P97299 | Sfrp2 | Secreted frizzled-related protein 2 | Mus musculus (Mouse) | PR |
| Q8C4U3 | Sfrp1 | Secreted frizzled-related protein 1 | Mus musculus (Mouse) | PR |
| Q08463 | Fzd1 | Frizzled-1 | Rattus norvegicus (Rat) | PR |
| Q9JLS4 | Sfrp4 | Secreted frizzled-related protein 4 | Rattus norvegicus (Rat) | PR |
| Q08464 | Fzd2 | Frizzled-2 | Rattus norvegicus (Rat) | PR |
| Q7YRN1 | SFRP4 | Secreted frizzled-related protein 4 | Macaca mulatta (Rhesus macaque) | PR |
| Q5BL72 | fzd7 | Frizzled-7 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLQGPGSLLL | LFLASHCCLG | SARGLFLFGQ | PDFSYKRSNC | KPIPANLQLC | HGIEYQNMRL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PNLLGHETMK | EVLEQAGAWI | PLVMKQCHPD | TKKFLCSLFA | PVCLDDLDET | IQPCHSLCVQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKDRCAPVMS | AFGFPWPDML | ECDRFPQDND | LCIPLASSDH | LLPATEEAPK | VCEACKNKND |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DDNDIMETLC | KNDFALKIKV | KEITYINRDT | KIILETKSKT | IYKLNGVSER | DLKKSVLWLK |
| 250 | 260 | 270 | 280 | 290 | |
| DSLQCTCEEM | NDINAPYLVM | GQKQGGELVI | TSVKRWQKGQ | REFKRISRSI | RKLQC |