O60353
PR
Gene name |
FZD6 |
Protein name |
Frizzled-6 |
Names |
Fz-6, hFz6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8323 |
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
3 structures for O60353
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8JH7 | EM | 320 A | PDB | ||
| 8JHB | EM | 330 A | R | 19-525 | PDB |
| AF-O60353-F1 | Predicted | AlphaFoldDB |
517 variants for O60353
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1453720 rs981045005 RCV000593548 RCV001027647 CA182984555 |
96 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Nonsyndromic congenital nail disorder 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA4834765 RCV000578928 rs769116796 RCV000505681 |
116 | R>* | Nephroblastoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000170581 rs786205672 RCV001329712 CA199714 |
290 | Y>C | Non-immune hydrops fetalis Nonsyndromic congenital nail disorder 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000988106 VAR_066966 rs150760762 CA4834902 |
405 | R>Q | Nonsyndromic congenital nail disorder 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1371244150 RCV001027648 CA371620487 |
438 | E>K | Nonsyndromic congenital nail disorder 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4834966 rs766284226 RCV001027646 |
509 | R>* | Nonsyndromic congenital nail disorder 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000077801 CA129147 rs151339003 VAR_066398 RCV000023301 |
511 | R>C | Nail disease Nonsyndromic congenital nail disorder 1 NDNC1; also found in a patient with neural tube defects; the mutant protein localizes to the lysosomes compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs151339002 RCV000077802 RCV000023300 CA129144 |
584 | E>* | Nail disease Nonsyndromic congenital nail disorder 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA371649986 CA371649985 rs3736047 |
2 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1210913676 CA371649983 |
2 | E>G | No |
ClinGen gnomAD |
|
|
CA371649994 rs1210122452 |
3 | M>I | No |
ClinGen TOPMed |
|
|
rs748362787 CA4834687 |
3 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1331820142 CA371650000 |
4 | F>C | No |
ClinGen TOPMed |
|
|
rs1223505061 CA371650009 |
6 | F>I | No |
ClinGen TOPMed |
|
|
rs754581593 CA4834690 |
9 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA371650037 rs1198557940 |
10 | C>G | No |
ClinGen gnomAD |
|
|
rs770928662 CA4834691 |
11 | I>F | No |
ClinGen ExAC |
|
| TCGA novel | 11 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371650066 rs1428125576 |
14 | P>L | No |
ClinGen gnomAD |
|
|
rs774093482 CA4834692 |
15 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs117477069 CA4834693 |
16 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372702981 CA4834695 |
20 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371650101 rs375688505 |
20 | S>N | No |
ClinGen ESP gnomAD |
|
|
CA182981276 rs375688505 |
20 | S>T | No |
ClinGen ESP gnomAD |
|
|
rs760374585 CA4834696 |
23 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs150839394 CA4834699 |
29 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150839394 CA371650160 |
29 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214604944 CA371650173 |
31 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs568034251 CA371650177 |
31 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371650182 rs752048729 |
32 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834701 rs752048729 |
32 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374556380 CA4834703 |
33 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs827528 CA182981286 |
33 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4834702 rs827528 VAR_047440 |
33 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA182981289 rs970993467 |
34 | K>Q | No |
ClinGen TOPMed |
|
|
rs111920622 CA182981291 |
34 | K>T | No |
ClinGen TOPMed |
|
|
CA371650208 rs1463161138 |
36 | A>S | No |
ClinGen TOPMed |
|
|
CA4834704 rs752962628 |
38 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322899571 CA371650231 |
39 | M>T | No |
ClinGen TOPMed |
|
|
rs1183370179 CA371650228 |
39 | M>V | No |
ClinGen Ensembl |
|
|
CA371650255 rs1292467728 |
42 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs553335677 CA4834705 |
44 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 46 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360566064 CA371650285 |
47 | G>S | No |
ClinGen gnomAD |
|
|
CA4834707 rs777814122 |
48 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA371650319 rs1300823391 |
51 | Q>R | No |
ClinGen gnomAD |
|
|
rs753953103 CA4834708 |
52 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs757230055 CA4834709 |
52 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs779056600 CA4834710 |
53 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348502085 CA371650329 |
53 | I>V | No |
ClinGen gnomAD |
|
|
rs1298616697 CA371650340 |
55 | A>T | No |
ClinGen TOPMed |
|
|
CA4834711 rs571735437 |
55 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 57 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371650391 rs780099524 |
60 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780099524 CA4834736 |
60 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146283758 CA4834737 |
61 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1487776894 CA371650418 |
64 | L>F | No |
ClinGen gnomAD |
|
|
rs375098302 CA4834740 |
65 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371650452 rs1563689931 |
69 | C>S | No |
ClinGen Ensembl |
|
|
rs762407732 CA4834743 |
71 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 72 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4834744 rs772568156 |
73 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA4834745 rs775914993 |
73 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA371650475 rs772568156 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371650518 rs1357409316 |
79 | K>E | No |
ClinGen TOPMed |
|
|
rs1287392567 CA371650539 |
82 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1049206443 CA182984546 |
85 | C>Y | No |
ClinGen TOPMed |
|
|
CA371650563 rs776955040 |
86 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834748 rs776955040 |
86 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834749 rs761922015 |
88 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943636809 CA182984550 |
88 | Q>P | No |
ClinGen TOPMed |
|
|
CA4834750 rs765509501 |
92 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534988999 CA4834752 |
94 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4834751 rs750564903 |
94 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4834753 rs766434022 |
96 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371650635 rs1487285963 |
97 | K>R | No |
ClinGen gnomAD |
|
|
rs1267735158 CA371650640 |
98 | L>F | No |
ClinGen gnomAD |
|
|
CA4834755 rs754842098 |
98 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA4834756 rs780825596 |
99 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4834757 rs747924397 |
100 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs755791699 CA4834758 |
100 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA371650663 rs748806283 |
101 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777335863 CA4834759 |
101 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415526913 CA371650697 |
104 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 109 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4834762 rs770418746 |
109 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834763 rs776136233 |
110 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA371650795 rs1586517286 |
110 | I>M | No |
ClinGen Ensembl |
|
|
CA182984567 rs1033835463 |
110 | I>T | No |
ClinGen Ensembl |
|
|
rs952870905 CA182984569 |
112 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4834764 rs747445291 |
115 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371650881 rs1466686516 |
116 | R>Q | No |
ClinGen TOPMed |
|
|
rs760023367 CA4834766 |
117 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762230921 CA4834767 |
120 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1452349213 CA371650958 |
121 | L>I | No |
ClinGen TOPMed |
|
|
rs939650828 CA182984577 |
122 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1319580028 CA371650974 |
122 | E>Q | No |
ClinGen gnomAD |
|
|
rs765560923 CA4834768 |
124 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149943553 CA182544632 |
127 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371495168 CA4834793 |
129 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4834792 rs767365157 |
129 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs760533281 CA4834794 |
130 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466609347 CA371615816 |
130 | D>G | No |
ClinGen gnomAD |
|
|
rs1397980291 CA371615828 |
132 | T>A | No |
ClinGen TOPMed |
|
|
rs564497180 CA4834795 |
133 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs935109876 CA182544733 |
134 | P>A | No |
ClinGen gnomAD |
|
|
rs1052086135 CA182544737 |
136 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 137 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4834796 rs377272890 |
137 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4834797 rs80216383 VAR_066963 |
140 | H>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 144 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749906371 CA4834799 |
146 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834798 rs778588461 |
146 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768203511 CA4834800 |
148 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA371616056 rs1276485475 |
148 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1438660101 CA371616077 |
149 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 151 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4834801 rs781609213 |
151 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310126701 CA371616131 |
151 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
VAR_066964 CA4834802 rs61753730 |
152 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1486796562 CA371616167 |
153 | V>G | No |
ClinGen gnomAD |
|
|
CA4834803 rs770330304 |
153 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 155 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4834805 rs749629030 |
156 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563692260 CA371616266 |
158 | G>V | No |
ClinGen Ensembl |
|
|
CA4834806 rs771059227 |
162 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1170004620 CA371616340 |
162 | P>L | No |
ClinGen gnomAD |
|
|
CA371616341 rs1414381279 |
163 | R>G | No |
ClinGen gnomAD |
|
|
rs1563692306 CA371616350 |
163 | R>S | No |
ClinGen Ensembl |
|
|
rs774570399 CA4834807 |
164 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928048347 CA182544805 |
165 | L>F | No |
ClinGen TOPMed |
|
|
rs1563692320 CA371616383 |
165 | L>P | No |
ClinGen Ensembl |
|
|
CA4834809 rs772185760 |
168 | S>P | No |
ClinGen ExAC |
|
|
CA4834812 CA4834811 rs529849844 |
169 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371616441 rs753667894 |
170 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs753667894 CA371616439 |
170 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs753667894 CA4834813 |
170 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs376449974 CA182544858 |
171 | Q>R | No |
ClinGen ESP |
|
|
rs548106295 CA182544869 |
173 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs764810706 CA4834815 |
174 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA182544888 rs1027272168 |
174 | K>R | No |
ClinGen Ensembl |
|
|
rs750079022 CA4834816 |
176 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1219701399 CA371616574 |
177 | G>R | No |
ClinGen gnomAD |
|
|
rs142125344 CA182544904 |
179 | D>N | No |
ClinGen ESP |
|
|
CA4834817 rs757914216 |
181 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs147788385 CA4834818 |
182 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4834819 rs751062369 |
182 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778357612 CA4834821 |
187 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs931241044 CA182544924 |
188 | M>T | No |
ClinGen TOPMed |
|
|
rs749679944 CA4834822 |
190 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4834823 rs771311097 |
193 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs779068115 CA4834824 |
193 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210328421 CA371616908 |
195 | L>P | No |
ClinGen gnomAD |
|
|
rs1396374934 CA371616934 |
196 | E>G | No |
ClinGen gnomAD |
|
|
rs746074508 CA4834825 |
197 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 199 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775573797 CA4834828 |
202 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834827 rs775573797 |
202 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA182544966 CA371617060 rs1048279178 |
203 | G>R | No |
ClinGen TOPMed |
|
|
rs776494531 CA4834830 |
207 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs146924761 CA4834829 |
207 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371617159 rs1330234377 |
208 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA371617156 rs1330234377 |
208 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371617161 rs1330234377 |
208 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 209 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437126989 CA371617211 |
210 | L>F | No |
ClinGen gnomAD |
|
|
rs1279554917 CA371617218 |
210 | L>P | No |
ClinGen TOPMed |
|
|
rs1352592850 CA371617252 |
212 | A>E | No |
ClinGen TOPMed |
|
|
CA371617303 rs1237966129 |
216 | T>A | No |
ClinGen TOPMed |
|
|
CA371617308 rs1563692486 |
216 | T>I | No |
ClinGen Ensembl |
|
|
CA4834832 rs765077597 |
217 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 219 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA182545005 CA371617405 rs893947591 |
221 | L>* | No |
ClinGen TOPMed |
|
|
rs1351700529 CA371617419 |
222 | I>V | No |
ClinGen gnomAD |
|
|
CA371617497 rs1586524226 |
225 | R>I | No |
ClinGen Ensembl |
|
|
CA182545007 rs1029258122 |
231 | E>K | No |
ClinGen Ensembl |
|
|
rs751119249 CA4834836 |
236 | Y>C | No |
ClinGen ExAC |
|
|
CA4834835 rs372850452 |
236 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754477513 CA4834838 |
237 | Y>C | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 241 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371617819 rs1194639978 |
242 | S>N | No |
ClinGen gnomAD |
|
|
rs1255516559 CA371617844 |
243 | I>T | No |
ClinGen gnomAD |
|
|
rs1453378750 CA371617855 |
244 | V>A | No |
ClinGen TOPMed |
|
|
rs879007257 CA182545037 |
245 | S>T | No |
ClinGen Ensembl |
|
|
rs764751010 CA4834840 |
246 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371617865 rs764751010 |
246 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377161583 CA4834841 |
247 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757599522 CA4834842 |
249 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA371617918 rs1161041099 |
250 | I>M | No |
ClinGen gnomAD |
|
|
rs1470963015 CA371617916 |
250 | I>T | No |
ClinGen gnomAD |
|
|
CA371617919 rs1389553987 |
251 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371617936 rs1176717343 |
252 | F>Y | No |
ClinGen gnomAD |
|
|
rs1327634438 CA371617946 |
253 | L>F | No |
ClinGen gnomAD |
|
|
rs1445893196 CA371617953 |
255 | G>S | No |
ClinGen gnomAD |
|
|
COSM1094460 rs201820118 CA4834845 |
256 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371617968 rs1241465064 |
257 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178027003 CA371617981 |
259 | A>T | No |
ClinGen gnomAD |
|
|
CA4834846 rs780187587 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1355903108 CA371618004 |
262 | K>* | No |
ClinGen gnomAD |
|
|
rs1214749440 CA371618006 |
262 | K>R | No |
ClinGen gnomAD |
|
|
CA371618031 rs1448517780 COSM453773 |
265 | E>D | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1193820321 CA371618024 |
265 | E>K | No |
ClinGen TOPMed |
|
|
CA371618037 rs1281963730 |
266 | K>M | No |
ClinGen TOPMed |
|
|
CA4834847 rs747106870 |
269 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA371618068 rs1563692618 |
271 | D>G | No |
ClinGen Ensembl |
|
|
rs1204165688 CA371618074 |
272 | T>A | No |
ClinGen TOPMed |
|
|
rs776618074 CA4834849 |
274 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370601506 CA4834851 |
277 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375091015 CA4834852 |
281 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762587938 CA4834853 |
282 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766142758 CA371618142 |
283 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766142758 CA4834854 |
283 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs141253426 CA4834855 |
284 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1412160705 CA371618161 |
286 | F>Y | No |
ClinGen Ensembl |
|
|
CA371618170 rs1398525123 |
287 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 292 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 293 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4834856 rs759181459 |
293 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357610731 CA371618223 |
294 | M>I | No |
ClinGen gnomAD |
|
|
CA4834857 rs767102317 |
294 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA371618220 rs1234072800 |
294 | M>T | No |
ClinGen gnomAD |
|
|
CA371618229 rs1316728046 |
295 | A>V | No |
ClinGen TOPMed |
|
|
rs1295529759 CA371618230 |
296 | G>S | No |
ClinGen gnomAD |
|
|
rs1586524678 CA371618237 |
297 | T>A | No |
ClinGen Ensembl |
|
|
rs754354607 CA4834858 |
299 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754354607 CA4834859 |
299 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218401052 CA371618261 |
300 | W>* | No |
ClinGen gnomAD |
|
|
rs1586524699 CA371618257 |
300 | W>G | No |
ClinGen Ensembl |
|
|
rs1586524720 CA371618269 |
301 | V>G | No |
ClinGen Ensembl |
|
|
CA371618271 rs1586524741 |
302 | I>V | No |
ClinGen Ensembl |
|
|
CA371618281 rs1469541628 |
303 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563692714 CA371618314 |
308 | F>Y | No |
ClinGen Ensembl |
|
|
rs1254810955 CA371618322 |
309 | L>S | No |
ClinGen gnomAD |
|
|
CA371618332 rs1459882979 |
311 | A>T | No |
ClinGen TOPMed |
|
|
rs758705643 CA4834862 |
312 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA371618343 rs1413255088 |
313 | R>G | No |
ClinGen TOPMed |
|
|
rs1168415461 CA371618345 |
313 | R>K | No |
ClinGen TOPMed |
|
|
rs138895095 CA182545293 |
317 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs747229738 CA4834864 |
319 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4834866 rs536022156 |
321 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs748134351 CA4834867 |
322 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA182545342 rs1048216110 |
322 | Q>R | No |
ClinGen Ensembl |
|
|
CA371618424 rs1464461855 |
324 | A>P | No |
ClinGen gnomAD |
|
|
rs769774212 CA182545359 |
325 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769774212 CA4834868 |
325 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371618447 rs1374882408 |
327 | F>Y | No |
ClinGen gnomAD |
|
|
rs144742285 CA4834869 |
329 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4834872 rs770841418 |
332 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834871 rs770841418 |
332 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399829071 CA371618490 |
334 | T>A | No |
ClinGen gnomAD |
|
|
rs1296713082 CA371618509 |
336 | G>R | No |
ClinGen gnomAD |
|
|
rs1004883584 CA371619052 |
337 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771804340 CA4834875 |
340 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1215635668 CA371619105 |
341 | M>I | No |
ClinGen TOPMed |
|
|
rs191400696 CA4834877 |
341 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191400696 CA4834876 |
341 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4834878 rs3808553 VAR_047441 |
345 | M>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4834879 rs371618519 |
345 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371619136 rs3808553 |
345 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763375328 CA4834880 |
347 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263522296 CA371619183 |
348 | V>A | No |
ClinGen gnomAD |
|
|
rs766701271 CA182545467 |
350 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4834881 rs766701271 |
350 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371619209 rs1328172302 |
351 | D>H | No |
ClinGen TOPMed |
|
|
CA371619215 rs1197995078 |
351 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371619227 rs1439059082 |
352 | N>I | No |
ClinGen TOPMed |
|
|
rs1439059082 CA371619223 |
352 | N>S | No |
ClinGen TOPMed |
|
|
rs751829856 CA4834882 |
357 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4834883 rs142793974 |
367 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563692945 CA371619385 |
367 | S>P | No |
ClinGen Ensembl |
|
|
rs374264909 CA4834884 |
368 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374264909 CA371619395 |
368 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375068426 CA4834885 |
368 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA182545588 rs375068426 |
368 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371619441 rs1289852576 |
372 | L>F | No |
ClinGen gnomAD |
|
|
CA4834886 rs756134702 |
372 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1385607524 CA371619468 |
374 | P>S | No |
ClinGen gnomAD |
|
|
CA4834889 rs770896684 |
377 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283232121 CA371619517 |
379 | V>M | No |
ClinGen gnomAD |
|
|
CA4834890 rs374209572 |
381 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4834891 rs745621688 |
384 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA371619585 rs745621688 |
384 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4834892 rs558172378 |
385 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4834893 VAR_066965 rs142694816 |
388 | A>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 389 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA182545617 rs1032475511 |
392 | S>F | No |
ClinGen Ensembl |
|
|
CA371619761 rs776411650 |
395 | H>L | No |
ClinGen gnomAD |
|
|
CA182545637 rs776411650 |
395 | H>R | No |
ClinGen gnomAD |
|
|
CA371619751 rs1586525320 |
395 | H>Y | No |
ClinGen Ensembl |
|
|
CA371619768 rs1378512583 |
396 | V>F | No |
ClinGen gnomAD |
|
|
CA4834895 rs768048309 |
397 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4834896 rs773811711 COSM1094463 |
397 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4834898 rs766830082 |
398 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371619810 rs1205160632 |
399 | V>I | No |
ClinGen TOPMed |
|
|
CA371619906 rs1325611528 |
403 | D>H | No |
ClinGen gnomAD |
|
|
rs186016315 CA4834901 |
405 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371620073 rs1280383857 |
414 | M>I | No |
ClinGen TOPMed |
|
|
rs1367124305 CA371620052 |
414 | M>V | No |
ClinGen TOPMed |
|
|
rs370982279 CA4834903 |
415 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4834904 rs777689471 |
416 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4834905 rs763949530 COSM421803 |
416 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA182545735 rs745581835 |
417 | I>T | No |
ClinGen Ensembl |
|
|
CA4834906 rs757294301 |
419 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371620139 rs757294301 |
419 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376142293 CA4834908 |
422 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779823367 CA4834910 |
423 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371620196 rs1236450328 |
423 | L>S | No |
ClinGen gnomAD |
|
|
CA4834912 rs746611504 |
424 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834911 rs746611504 |
424 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432404440 CA371620209 |
424 | Y>H | No |
ClinGen TOPMed |
|
|
CA371620252 rs1422261267 |
426 | V>L | No |
ClinGen gnomAD |
|
|
CA371620255 rs1422261267 |
426 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952688049 CA182545773 |
430 | T>I | No |
ClinGen TOPMed |
|
|
CA371620350 rs1182066631 |
431 | L>V | No |
ClinGen TOPMed |
|
|
CA4834914 rs541992719 |
433 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs756849567 CA4834915 |
434 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834917 rs759960644 |
436 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs560116992 CA4834921 |
440 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4834920 rs760826071 |
440 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4834922 rs753974488 |
442 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753974488 CA371620569 |
442 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336606160 CA371620637 |
445 | W>* | No |
ClinGen gnomAD |
|
|
CA371620654 rs1278481298 |
446 | E>G | No |
ClinGen gnomAD |
|
|
CA4834923 rs757357454 |
447 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319324841 CA371620733 |
450 | V>A | No |
ClinGen gnomAD |
|
|
CA182545855 rs527378976 |
450 | V>F | No |
ClinGen 1000Genomes |
|
|
CA371620761 rs1415509621 |
452 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 453 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764886770 CA371620806 |
454 | C>* | No |
ClinGen gnomAD |
|
|
rs1272285096 CA371620802 |
454 | C>F | No |
ClinGen gnomAD |
|
|
rs368015730 CA4834924 |
455 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA182545880 rs551894404 |
455 | R>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs963976545 CA182545894 |
459 | I>V | No |
ClinGen TOPMed |
|
|
rs1271758222 CA371620928 |
461 | C>R | No |
ClinGen gnomAD |
|
|
CA371620960 rs1398645999 |
462 | P>T | No |
ClinGen TOPMed |
|
|
CA371621000 rs1187402604 |
464 | Q>E | No |
ClinGen gnomAD |
|
|
rs779693042 CA4834927 |
464 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1286940633 CA4834942 |
465 | A>G | No |
ClinGen TOPMed |
|
|
CA4834944 rs765376606 |
467 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1188744886 CA371621491 |
469 | A>D | No |
ClinGen gnomAD |
|
|
CA4834945 rs750436184 |
470 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1094465 rs758292286 CA4834946 |
470 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs147565570 CA4834949 |
472 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751323317 CA4834948 |
472 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432819906 CA371621628 |
474 | A>V | No |
ClinGen gnomAD |
|
|
CA182548359 rs768721252 |
477 | M>K | No |
ClinGen TOPMed |
|
|
rs777284498 CA4834953 |
478 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4834955 rs149021436 |
480 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376124026 CA4834957 |
485 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4834958 rs780555971 |
486 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs747394243 CA4834959 |
488 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs769142373 CA4834960 |
489 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4834964 rs773197811 |
493 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA4834963 rs770093420 COSM3675025 |
493 | W>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs113688012 CA182548483 |
494 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 498 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468284989 CA371622413 |
498 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1414701442 CA371622541 |
504 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371622730 rs1385205122 |
508 | K>* | No |
ClinGen gnomAD |
|
|
CA371622753 rs766284226 |
509 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834967 rs143405641 COSM1094468 |
509 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1393674469 CA371622782 |
510 | N>T | No |
ClinGen gnomAD |
|
|
rs767273753 CA4834968 VAR_066967 |
511 | R>H | Variant assessed as Somatic; 0.0 impact. a patient with neural tube defects [NCI-TCGA, UniProt] | No |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs1236956669 CA371622842 |
512 | K>N | No |
ClinGen gnomAD |
|
|
rs761539526 CA4834969 |
514 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291827455 CA371624430 |
515 | P>L | No |
ClinGen gnomAD |
|
|
rs1032747700 CA182549730 |
516 | I>V | No |
ClinGen TOPMed |
|
|
rs1271354824 CA371624447 |
517 | S>C | No |
ClinGen TOPMed |
|
|
CA4834985 rs759490885 |
519 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4834986 rs151317643 |
520 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA182549785 rs367925897 |
520 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371624479 rs367925897 |
520 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4834987 rs367925897 |
520 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140569835 CA4834989 |
522 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA182549802 rs866038097 |
524 | Q>K | No |
ClinGen Ensembl |
|
|
rs1439202689 CA371624522 |
524 | Q>R | No |
ClinGen gnomAD |
|
|
CA4834990 rs753526077 |
525 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756757913 CA4834991 |
527 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1475451914 CA371624564 |
527 | C>W | No |
ClinGen gnomAD |
|
|
CA371624632 rs1166790169 |
532 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4834992 rs764786532 |
534 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 536 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4834994 rs554970152 |
544 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA182549883 rs1021765095 |
547 | S>G | No |
ClinGen TOPMed |
|
|
CA371624794 rs1431877722 |
547 | S>N | No |
ClinGen gnomAD |
|
|
CA4834995 rs375398057 |
549 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1415822378 CA371624824 |
550 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA182549947 rs748578409 |
553 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748578409 CA4834996 |
553 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA371624869 rs1325234560 |
554 | I>T | No |
ClinGen gnomAD |
|
|
CA4834997 rs756540473 |
555 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs145774645 CA4834998 |
557 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371624909 rs1208095664 |
558 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1208095664 CA371624907 |
558 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1279212971 CA371624945 |
561 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4834999 rs749500056 |
566 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1160809849 CA371625018 |
568 | H>P | No |
ClinGen gnomAD |
|
|
rs1160809849 COSM1285090 CA371625019 |
568 | H>R | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371625052 rs1259349680 |
572 | A>T | No |
ClinGen gnomAD |
|
|
rs745879785 CA4835002 |
575 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 576 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4835004 rs775395889 |
578 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760532855 CA4835005 |
582 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs776196559 CA4835007 |
583 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA182550045 rs151339002 |
584 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339133281 CA371625195 |
585 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 585 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764759728 CA4835008 |
586 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA371625225 rs1231505920 |
588 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1231505920 CA371625222 |
588 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371625249 rs1359184533 |
590 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1347605213 CA371625263 |
591 | T>N | No |
ClinGen TOPMed |
|
|
rs963229485 CA182550070 |
595 | T>I | No |
ClinGen gnomAD |
|
|
rs1485454569 CA371625333 |
598 | R>* | No |
ClinGen gnomAD |
|
|
rs758708176 CA371625349 |
599 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355142337 CA371625343 |
599 | E>K | No |
ClinGen TOPMed |
|
|
CA371625354 rs1381945857 |
600 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371625351 rs1381945857 |
600 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs556352002 CA4835011 |
602 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79408516 CA4835014 VAR_066968 |
604 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749576044 CA4835015 |
607 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4835016 rs757505339 |
607 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA371625440 rs749576044 |
607 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs143153183 CA4835019 |
609 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1040321851 CA371625491 CA182550154 |
609 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 610 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371625538 rs1324637196 |
611 | R>S | No |
ClinGen gnomAD |
|
|
rs1586531763 CA371625607 |
613 | Q>H | No |
ClinGen Ensembl |
|
|
rs746927610 CA4835022 |
614 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4835021 rs746927610 |
614 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs377263981 CA4835023 |
615 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371625670 rs1444393939 |
615 | C>S | No |
ClinGen gnomAD |
|
|
rs1586531802 CA371625712 |
617 | E>D | No |
ClinGen Ensembl |
|
|
CA4835025 rs138824850 |
618 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371625741 rs138824850 |
618 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs903082125 CA182550260 |
619 | A>V | No |
ClinGen TOPMed |
|
|
CA4835027 rs762588534 |
620 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4835026 VAR_066969 rs116195528 |
620 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751060280 CA4835029 |
622 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4835030 rs144179120 |
623 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371625860 rs1192966381 |
625 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4835033 rs754241636 |
629 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4835034 rs757546452 |
630 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164898443 CA371626006 |
631 | E>Q | No |
ClinGen gnomAD |
|
|
CA4835035 rs779174548 |
631 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs750613302 CA4835036 |
632 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs758522857 CA4835037 |
633 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA371626086 rs139052958 |
634 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4835039 rs139052958 |
634 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4835041 rs116913901 |
635 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371626203 rs1173573170 |
639 | A>G | No |
ClinGen gnomAD |
|
|
rs1175129726 CA371626202 |
639 | A>T | No |
ClinGen TOPMed |
|
|
CA4835043 rs769442423 |
641 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA371626291 rs1419232323 |
644 | E>A | No |
ClinGen TOPMed |
|
|
CA371626331 rs1323413408 |
645 | S>G | No |
ClinGen gnomAD |
|
|
CA371626341 rs371961225 |
645 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4835044 rs371961225 |
645 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456980766 CA371626344 |
645 | S>R | No |
ClinGen TOPMed |
|
|
rs141288802 CA371626364 |
646 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231211711 CA371626347 |
646 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs141288802 CA4835045 |
646 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768811178 CA4835047 |
647 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA182550428 COSM1488857 rs201432167 |
647 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs758912519 CA4835048 |
648 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751676826 CA4835059 |
653 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs996103644 CA182551602 |
654 | P>S | No |
ClinGen gnomAD |
|
|
rs558778118 CA4835061 |
657 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4835062 rs748009628 |
658 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 661 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4835063 rs769718856 |
661 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749023962 CA4835065 |
662 | G>S | No |
ClinGen ExAC gnomAD |
|
|
VAR_047442 CA4835067 rs12549394 |
664 | A>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA182551662 rs12549394 |
664 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749101422 CA4835068 |
666 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777245445 CA4835070 |
669 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA371627259 rs1279797675 |
670 | Q>R | No |
ClinGen gnomAD |
|
|
rs1376631182 CA371627276 |
671 | V>I | No |
ClinGen TOPMed |
|
|
rs970326057 CA182551671 |
672 | P>T | No |
ClinGen TOPMed |
|
|
CA4835073 rs773575339 |
677 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1418634189 CA371627365 |
677 | P>T | No |
ClinGen TOPMed |
|
|
CA371627385 rs1465708211 |
678 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4835074 rs763249133 |
678 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4835075 rs573163067 |
679 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531823087 CA182551730 |
679 | S>N | No |
ClinGen Ensembl |
|
|
rs145137978 CA4835077 |
680 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4835076 rs145137978 |
680 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1001359011 CA182551784 |
681 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371627455 rs1426821574 |
682 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 682 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4835078 rs767514175 |
683 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA371627501 rs1345737229 |
687 | L>F | No |
ClinGen gnomAD |
|
|
rs1437140239 CA371627516 |
688 | V>I | No |
ClinGen gnomAD |
|
|
CA182551799 rs1035910686 |
690 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371627598 rs1586533643 |
694 | V>L | No |
ClinGen Ensembl |
|
|
CA371627655 rs1275708078 |
698 | Q>* | No |
ClinGen gnomAD |
|
|
rs1347370815 CA371627657 |
698 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4835082 rs749153508 |
700 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371627697 rs1350106717 |
701 | G>C | No |
ClinGen TOPMed |
|
|
CA371627694 rs1350106717 |
701 | G>S | No |
ClinGen TOPMed |
|
|
CA371627700 rs1221924968 |
701 | G>V | No |
ClinGen gnomAD |
|
|
CA4835083 rs757112285 |
702 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371627728 rs1563696331 |
703 | H>R | No |
ClinGen Ensembl |
|
|
rs771707817 CA4835087 |
707 | T>C | No |
ClinGen ExAC gnomAD |
|
|
CA4835085 rs778666015 |
707 | T>G | No |
ClinGen ExAC gnomAD |
2 associated diseases with O60353
[MIM: 161050]: Nail disorder, non-syndromic congenital, 1 (NDNC1)
An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. {ECO:0000269|PubMed:21665003}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. {ECO:0000269|PubMed:21665003}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for O60353
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Frizzled/Smoothened, transmembrane domain | 188 - 513 | IPR000539 |
| domain | GPCR, family 2-like, transmembrane domain | 195 - 502 | IPR017981 |
| domain | Frizzled domain | 19 - 134 | IPR020067 |
| domain | Frizzled-6, transmembrane domain | 188 - 508 | IPR026543 |
| domain | Frizzled 6, cysteine-rich domain | 20 - 146 | IPR041770 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| apicolateral plasma membrane | The apical end of the lateral plasma membrane of epithelial cells. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| Wnt receptor activity | Combining with a Wnt protein and transmitting the signal across the plasma membrane to initiate a change in cell activity. |
| Wnt-protein binding | Binding to a Wnt-protein, a secreted growth factor involved in signaling. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| cell proliferation in midbrain | The multiplication or reproduction of cells, resulting in the expansion of a cell population in the midbrain. |
| embryonic nail plate morphogenesis | The process, occurring in the embryo, by which the anatomical structures of a nail plate are generated and organized. The nail plate is the hard and translucent portion of the nail, composed of keratin, and serves to protect the tips of digits. [GOC:BHF, GOC:vk, ISBN:0323025781, PMID:11369996, UBERON:0008198, Wikipedia:Nail_(anatomy)] |
| establishment of body hair planar orientation | Orientation of body hairs, projections from the surface of an organism, such that the hairs all point in a uniform direction along the surface. |
| hair follicle development | The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. |
| inner ear morphogenesis | The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively. |
| midbrain morphogenesis | The developmental process by which a midbrain is generated and organized. |
| 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 DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| 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. |
| non-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 effectors other than beta-catenin. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| Wnt signaling pathway, planar cell polarity pathway | 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 including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity. |
23 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 |
| O00144 | FZD9 | Frizzled-9 | Homo sapiens (Human) | PR |
| Q9ULW2 | FZD10 | Frizzled-10 | Homo sapiens (Human) | PR |
| Q8N474 | SFRP1 | Secreted frizzled-related protein 1 | Homo sapiens (Human) | PR |
| Q96HF1 | SFRP2 | Secreted frizzled-related protein 2 | Homo sapiens (Human) | PR |
| Q6FHJ7 | SFRP4 | Secreted frizzled-related protein 4 | Homo sapiens (Human) | PR |
| O75084 | FZD7 | Frizzled-7 | Homo sapiens (Human) | PR |
| Q14332 | FZD2 | Frizzled-2 | Homo sapiens (Human) | PR |
| Q9UP38 | FZD1 | Frizzled-1 | Homo sapiens (Human) | PR |
| Q9Z1N6 | Sfrp4 | Secreted frizzled-related sequence protein 4 | 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 |
| O70421 | Fzd1 | Frizzled-1 | Mus musculus (Mouse) | PR |
| Q9JIP6 | Fzd2 | Frizzled-2 | Mus musculus (Mouse) | PR |
| Q61090 | Fzd7 | Frizzled-7 | 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 |
| MEMFTFLLTC | IFLPLLRGHS | LFTCEPITVP | RCMKMAYNMT | FFPNLMGHYD | QSIAAVEMEH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLPLANLECS | PNIETFLCKA | FVPTCIEQIH | VVPPCRKLCE | KVYSDCKKLI | DTFGIRWPEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LECDRLQYCD | ETVPVTFDPH | TEFLGPQKKT | EQVQRDIGFW | CPRHLKTSGG | QGYKFLGIDQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CAPPCPNMYF | KSDELEFAKS | FIGTVSIFCL | CATLFTFLTF | LIDVRRFRYP | ERPIIYYSVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YSIVSLMYFI | GFLLGDSTAC | NKADEKLELG | DTVVLGSQNK | ACTVLFMLLY | FFTMAGTVWW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VILTITWFLA | AGRKWSCEAI | EQKAVWFHAV | AWGTPGFLTV | MLLAMNKVEG | DNISGVCFVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LYDLDASRYF | VLLPLCLCVF | VGLSLLLAGI | ISLNHVRQVI | QHDGRNQEKL | KKFMIRIGVF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SGLYLVPLVT | LLGCYVYEQV | NRITWEITWV | SDHCRQYHIP | CPYQAKAKAR | PELALFMIKY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LMTLIVGISA | VFWVGSKKTC | TEWAGFFKRN | RKRDPISESR | RVLQESCEFF | LKHNSKVKHK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KKHYKPSSHK | LKVISKSMGT | STGATANHGT | SAVAITSHDY | LGQETLTEIQ | TSPETSMREV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KADGASTPRL | REQDCGEPAS | PAASISRLSG | EQVDGKGQAG | SVSESARSEG | RISPKSDITD |
| 670 | 680 | 690 | 700 | ||
| TGLAQSNNLQ | VPSSSEPSSL | KGSTSLLVHP | VSGVRKEQGG | GCHSDT |