Q96FE5
PR
Gene name |
LINGO1 (LERN1, LRRN6A, UNQ201/PRO227) |
Protein name |
Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 |
Names |
Leucine-rich repeat and immunoglobulin domain-containing protein 1, Leucine-rich repeat neuronal protein 1, Leucine-rich repeat neuronal protein 6A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84894 |
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 Q96FE5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2ID5 | X-ray | 270 A | A/B/C/D | 40-516 | PDB |
| 4OQT | X-ray | 323 A | A | 40-517 | PDB |
| AF-Q96FE5-F1 | Predicted | AlphaFoldDB |
459 variants for Q96FE5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001332713 CA7678039 rs772748227 |
24 | Q>E | Intellectual disability, autosomal recessive 64 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150289554 RCV001336797 CA7677992 |
99 | E>K | Intellectual disability, autosomal recessive 64 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7677898 rs750612085 RCV000678222 VAR_081164 |
288 | Y>C | Intellectual disability, autosomal recessive 64 MRT64 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_081165 RCV000678221 CA7677896 rs757077698 |
290 | R>H | Intellectual disability, autosomal recessive 64 MRT64 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs868551107 CA273793561 RCV001332712 |
469 | K>R | Intellectual disability, autosomal recessive 64 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1374122063 CA393541808 |
2 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA393541785 rs1333856256 |
2 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA273808187 rs112209041 |
2 | Q>R | No |
ClinGen Ensembl |
|
|
CA393539615 rs1267658598 |
3 | V>G | No |
ClinGen TOPMed |
|
|
CA273795217 rs113329801 |
4 | S>C | No |
ClinGen Ensembl |
|
|
CA393539607 rs1287468856 |
4 | S>N | No |
ClinGen gnomAD |
|
|
CA273795210 rs1003844777 |
4 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777822241 CA7678047 |
6 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA393539588 rs758692253 |
6 | R>K | No |
ClinGen ExAC |
|
|
CA7678046 rs758692253 |
6 | R>M | No |
ClinGen ExAC |
|
|
CA393539566 rs1235854293 |
7 | M>I | No |
ClinGen gnomAD |
|
|
CA393539561 rs1332216463 |
8 | L>M | No |
ClinGen gnomAD |
|
|
rs1295489959 CA393539554 |
9 | A>T | No |
ClinGen gnomAD |
|
|
CA273795177 rs1051425842 |
9 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA273795148 rs899690622 |
10 | G>E | No |
ClinGen gnomAD |
|
|
rs1428417792 CA393538948 |
10 | G>R | No |
ClinGen TOPMed |
|
|
rs1434365770 CA393538939 |
11 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1167207178 CA393538941 |
11 | G>C | No |
ClinGen TOPMed |
|
|
CA393538933 rs1595979914 |
12 | V>G | No |
ClinGen Ensembl |
|
|
CA393538937 rs753710707 |
12 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753710707 CA7678042 |
12 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201732477 CA7678041 |
14 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273795121 rs936123943 |
15 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393538906 rs1192874934 |
16 | P>L | No |
ClinGen gnomAD |
|
|
CA273795119 rs866132976 |
16 | P>S | No |
ClinGen Ensembl |
|
|
rs1264742102 CA393538902 |
17 | S>N | No |
ClinGen gnomAD |
|
|
rs760136702 CA393538899 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1276029086 CA393538894 |
18 | P>H | No |
ClinGen gnomAD |
|
|
rs1485168104 CA393538895 |
18 | P>S | No |
ClinGen gnomAD |
|
|
rs1485168104 CA393538896 |
18 | P>T | No |
ClinGen gnomAD |
|
|
CA393538889 rs1346131570 |
19 | L>F | No |
ClinGen TOPMed gnomAD |
|
| rs1251049258 | 19 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346131570 CA393538890 |
19 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393538873 rs1278974839 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs1338998081 CA393538871 |
22 | C>R | No |
ClinGen gnomAD |
|
|
CA393538869 rs1336388886 |
22 | C>Y | No |
ClinGen gnomAD |
|
|
CA393538854 rs772748227 |
24 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393538850 rs375328968 |
24 | Q>H | No |
ClinGen ESP gnomAD |
|
|
rs374515606 CA273795108 |
27 | L>P | No |
ClinGen Ensembl |
|
|
CA273795100 rs904431701 |
30 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1425657361 CA393538819 |
30 | V>M | No |
ClinGen gnomAD |
|
|
CA393538810 rs1235436466 |
32 | G>S | No |
ClinGen gnomAD |
|
|
CA393538776 rs1237983475 |
37 | G>V | No |
ClinGen gnomAD |
|
|
rs775709951 CA7678036 |
38 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7678037 rs761580323 |
38 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA393538770 rs1232815006 |
39 | A>P | No |
ClinGen gnomAD |
|
|
rs1354352941 CA393538766 |
39 | A>V | No |
ClinGen gnomAD |
|
|
rs747055318 CA7678031 |
40 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7678032 rs747055318 |
40 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273795040 rs977400068 |
40 | T>S | No |
ClinGen Ensembl |
|
|
CA393538759 rs1330484177 |
41 | G>D | No |
ClinGen gnomAD |
|
|
CA393538752 rs1402454351 |
42 | C>Y | No |
ClinGen gnomAD |
|
|
CA393538743 rs1242214390 |
43 | P>L | No |
ClinGen TOPMed |
|
|
CA393538746 rs1404634675 |
43 | P>S | No |
ClinGen gnomAD |
|
|
rs1164446608 CA393538737 |
44 | P>L | No |
ClinGen gnomAD |
|
|
rs112205560 CA7678026 |
45 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766269530 CA7678024 |
47 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs992174840 CA273794980 |
48 | C>Y | No |
ClinGen Ensembl |
|
|
rs749922029 CA7678022 |
49 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393538667 rs1292145275 |
50 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1307339875 CA393538638 |
52 | D>Y | No |
ClinGen gnomAD |
|
|
rs751163599 CA7678019 |
53 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759941246 CA7678017 |
54 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393538607 rs1347996197 |
54 | A>V | No |
ClinGen gnomAD |
|
|
rs1325003266 CA393538587 |
56 | L>R | No |
ClinGen gnomAD |
|
|
CA393538555 rs1156475777 |
59 | R>C | No |
ClinGen gnomAD |
|
|
CA273794962 rs973565369 |
59 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1441087058 CA393538533 |
61 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771542575 CA7678015 |
61 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1477354909 CA393538491 |
64 | A>V | No |
ClinGen gnomAD |
|
|
CA7678014 rs761325888 |
65 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1487995400 CA393538473 |
66 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393538469 rs772126673 |
67 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs772126673 CA7678012 |
67 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748193337 CA7678011 |
68 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA393538449 rs1284714551 |
68 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365490816 CA393538426 |
71 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393538425 rs1437040202 |
72 | E>K | No |
ClinGen gnomAD |
|
|
CA7678008 rs749055760 COSM1374737 |
74 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1360742771 CA393538346 |
79 | G>C | No |
ClinGen gnomAD |
|
|
CA393538307 rs1175844404 |
82 | R>H | No |
ClinGen gnomAD |
|
|
rs1413117169 CA393538290 |
83 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7678007 rs779881686 |
84 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756041181 CA7678006 |
85 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1195868494 CA393538258 |
86 | L>P | No |
ClinGen gnomAD |
|
|
CA7678004 rs781003294 |
87 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393538225 rs1206280191 |
89 | D>N | No |
ClinGen TOPMed |
|
|
rs751063775 CA7678002 COSM1374736 |
90 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs370164787 COSM1213409 CA7678000 |
92 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA393538162 rs1224083791 |
92 | A>V | No |
ClinGen gnomAD |
|
|
CA7677999 rs754246676 |
93 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753809050 CA273794877 |
95 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677998 rs753809050 |
95 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM361811 rs772484972 CA7677995 |
96 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 97 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373056019 CA7677991 |
99 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769519120 CA7677989 |
101 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745669783 CA7677988 |
103 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113096707 CA7677985 |
107 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368995199 CA7677983 |
109 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA273794786 rs905176705 |
110 | V>L | No |
ClinGen TOPMed |
|
|
CA7677981 rs560317705 |
111 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1311302497 CA393537851 |
112 | P>S | No |
ClinGen gnomAD |
|
|
CA7677979 rs750791294 |
114 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7677978 rs768043675 |
117 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1055792908 CA273794718 |
120 | N>S | No |
ClinGen Ensembl |
|
|
CA7677976 rs188738703 COSM1213410 |
122 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM358955 rs1333972993 CA393537716 |
122 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs764093658 CA7677975 COSM965271 |
123 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs920818090 CA273794695 |
127 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA393537660 rs1414762142 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs745645776 CA7677971 |
128 | S>R | No |
ClinGen ExAC |
|
|
rs1436286403 CA393537628 |
130 | R>C | No |
ClinGen gnomAD |
|
|
rs973578379 CA273794672 |
130 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs562802428 CA273794664 |
134 | I>L | No |
ClinGen 1000Genomes |
|
|
CA393537606 rs562802428 |
134 | I>V | No |
ClinGen 1000Genomes |
|
|
CA7677968 rs770888059 |
136 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323181972 CA393537583 |
138 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs866352031 CA273794639 |
151 | S>N | No |
ClinGen Ensembl |
|
|
CA7677965 rs757926173 |
154 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2271398 CA393537461 |
155 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200688402 CA7677963 |
157 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7677960 rs767833518 |
162 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273648556 CA393537420 |
162 | M>T | No |
ClinGen TOPMed |
|
|
CA7677961 rs767833518 |
162 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215571439 CA393537387 |
166 | L>R | No |
ClinGen TOPMed |
|
|
CA393537390 rs1158286181 |
166 | L>V | No |
ClinGen gnomAD |
|
|
rs200463885 CA7677958 |
170 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273794579 rs866553142 |
174 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs866553142 CA393537335 |
174 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA273794557 COSM434355 rs1000002354 |
176 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs370278779 CA7677955 |
180 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7677954 rs765476234 |
181 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1215488041 CA393537285 |
182 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs9855 CA273794543 VAR_042436 |
183 | S>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1288664697 CA393537264 |
185 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs776481459 CA7677952 |
185 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767013521 CA7677951 COSM965269 |
186 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773238169 CA7677949 |
189 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7677948 rs772170096 |
191 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA393537201 rs1465261241 |
195 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA273794513 rs1014789586 |
197 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393537139 rs1595977802 |
204 | T>P | No |
ClinGen Ensembl |
|
|
rs1434802024 CA393537115 |
208 | T>A | No |
ClinGen gnomAD |
|
|
rs754651825 CA7677945 |
208 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273794497 rs955121948 |
210 | A>V | No |
ClinGen TOPMed |
|
|
CA7677940 rs778223479 |
214 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314014668 CA393537071 |
215 | H>R | No |
ClinGen gnomAD |
|
|
rs866242111 CA273794474 |
216 | G>D | No |
ClinGen Ensembl |
|
|
CA393537067 rs1236110595 |
216 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7677936 rs753953462 |
219 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA7677935 rs753953462 |
219 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7677932 rs376324371 |
223 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7677933 rs760509614 |
223 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393537018 rs1395605955 |
224 | H>Q | No |
ClinGen gnomAD |
|
|
CA7677931 rs772119140 |
226 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs923493783 CA273794438 |
226 | N>T | No |
ClinGen TOPMed |
|
|
rs761904303 CA7677930 |
228 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774346087 CA393536994 |
228 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA7677929 rs774346087 |
228 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393536984 rs1385534919 |
230 | I>V | No |
ClinGen TOPMed |
|
|
rs779531033 CA7677926 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7677927 rs201517725 |
231 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374237680 CA393536955 |
234 | S>C | No |
ClinGen gnomAD |
|
|
rs778170323 CA393536918 |
239 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393536917 rs1202522654 |
240 | R>G | No |
ClinGen gnomAD |
|
|
rs758902124 CA7677922 |
240 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 242 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 246 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340203362 CA393536877 |
246 | I>V | No |
ClinGen TOPMed |
|
|
rs779491608 CA7677920 |
247 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7677919 rs754968570 |
249 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA7677918 rs184237450 |
251 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393536822 rs766482970 |
254 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7677917 rs766482970 |
254 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7677916 rs370971472 |
255 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393536809 rs1595977240 |
256 | T>P | No |
ClinGen Ensembl |
|
|
CA273794352 rs538668864 |
257 | P>A | No |
ClinGen gnomAD |
|
|
rs77436810 CA7677915 |
258 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77436810 CA273794345 |
258 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273794309 rs534115809 |
262 | G>C | No |
ClinGen Ensembl |
|
|
rs534115809 CA393536769 |
262 | G>S | No |
ClinGen Ensembl |
|
|
rs377671379 CA7677912 COSM965267 |
266 | T>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA7677910 rs762337079 |
267 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA393536724 rs1237890354 |
270 | I>V | No |
ClinGen gnomAD |
|
|
CA393536711 rs1567448996 |
272 | H>N | No |
ClinGen Ensembl |
|
|
rs193100227 CA7677907 |
274 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7677908 rs193100227 |
274 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7677905 rs111741384 |
277 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7677904 rs111741384 |
277 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393536672 rs1209288929 |
278 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1209288929 CA393536674 |
278 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393536659 rs1595976976 |
280 | Y>S | No |
ClinGen Ensembl |
|
|
CA7677901 rs369718013 |
283 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369718013 COSM434354 CA7677900 |
283 | V>I | lung Variant assessed as Somatic; 0.0 impact. endometrium breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7677899 rs202233236 COSM1563346 |
284 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs767873726 CA7677897 COSM701762 |
290 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393536598 rs1256645829 |
291 | F>I | No |
ClinGen gnomAD |
|
|
CA393536567 rs1165097195 |
295 | S>C | No |
ClinGen gnomAD |
|
|
CA393536546 rs1177139668 |
298 | P>S | No |
ClinGen gnomAD |
|
|
rs763006902 CA7677893 |
299 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs533195161 CA7677892 |
300 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393536534 rs1205490606 |
300 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256458061 CA393536508 |
304 | G>S | No |
ClinGen TOPMed |
|
|
rs1198320993 CA393536497 |
305 | S>F | No |
ClinGen gnomAD |
|
|
rs895897032 CA273794211 |
306 | M>V | No |
ClinGen Ensembl |
|
|
CA393536477 rs1449954383 |
308 | H>R | No |
ClinGen gnomAD |
|
|
rs1285103347 CA393536452 |
312 | R>Q | No |
ClinGen gnomAD |
|
|
CA393536415 rs1252290371 |
317 | Q>H | No |
ClinGen TOPMed |
|
|
CA273794171 rs993347507 |
320 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1405233483 CA393536402 |
320 | G>S | No |
ClinGen gnomAD |
|
|
rs774831720 CA7677886 |
321 | G>R | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172510986 CA393536386 |
322 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA273794135 rs752301504 |
325 | V>A | No |
ClinGen TOPMed |
|
|
CA7677882 rs199976207 |
325 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393536369 rs1200204802 |
326 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7677880 rs781531990 |
328 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7677879 rs757600962 |
329 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7677878 rs751300730 |
330 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7677876 rs758132909 |
332 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372907046 CA7677875 |
332 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776160711 CA7677872 |
333 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393536320 rs1339506798 |
334 | L>V | No |
ClinGen gnomAD |
|
|
rs1295979198 CA393536311 |
335 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7677871 rs765997120 |
336 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772742302 CA393536299 |
337 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763246298 COSM965260 CA7677867 |
338 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776098870 CA7677866 |
338 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763246298 CA7677868 |
338 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745918219 CA393536291 |
339 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745918219 CA7677864 |
339 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 340 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771055276 CA7677862 |
342 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs540796339 CA7677860 |
344 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs933474359 CA273794018 |
348 | T>I | No |
ClinGen gnomAD |
|
|
rs758164181 CA7677859 |
348 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs752469221 CA7677858 |
350 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677855 COSM965258 rs753336987 |
357 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA393536172 rs1446273186 |
358 | V>L | No |
ClinGen gnomAD |
|
|
CA393536164 rs1337972755 |
359 | G>D | No |
ClinGen gnomAD |
|
|
CA393536156 rs1595975935 |
360 | N>T | No |
ClinGen Ensembl |
|
|
CA393536152 rs1465499742 |
361 | L>V | No |
ClinGen gnomAD |
|
|
CA393536143 rs1429450920 |
362 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 364 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7677849 rs770410318 |
365 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677847 rs760188658 |
365 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770410318 CA7677848 |
365 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595975798 CA393536117 |
367 | D>A | No |
ClinGen Ensembl |
|
|
CA7677845 rs770988098 |
367 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778019875 CA7677843 |
369 | N>S | No |
ClinGen ExAC |
|
|
CA393536103 rs778019875 |
369 | N>T | No |
ClinGen ExAC |
|
|
CA273793927 rs747920582 |
370 | P>L | Variant assessed as Somatic; 4.751e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747920582 CA7677841 |
370 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7677842 rs772226246 |
370 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA393536095 rs867309209 |
371 | L>M | No |
ClinGen gnomAD |
|
|
rs753712894 CA7677838 |
371 | L>P | No |
ClinGen ExAC |
|
|
rs1316116644 CA393536087 |
372 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1371775135 CA393536082 |
373 | C>Y | No |
ClinGen gnomAD |
|
|
rs1462553656 CA393536078 |
374 | D>N | No |
ClinGen gnomAD |
|
|
rs1349320176 CA393536067 |
375 | C>Y | No |
ClinGen gnomAD |
|
|
rs1162953118 CA393536061 |
376 | R>W | No |
ClinGen gnomAD |
|
|
rs1272085535 CA393536030 |
381 | F>I | No |
ClinGen TOPMed |
|
|
CA7677836 rs755607922 |
382 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779875158 CA7677837 |
382 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393536018 rs1178489044 |
383 | R>C | No |
ClinGen gnomAD |
|
|
rs1480681202 CA393536016 |
383 | R>H | No |
ClinGen gnomAD |
|
|
rs1219832893 CA393536012 |
384 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1361090513 CA393536011 |
384 | R>H | No |
ClinGen gnomAD |
|
|
CA393535997 rs1315723010 |
386 | R>Q | No |
ClinGen gnomAD |
|
|
rs1239872748 CA393535998 |
386 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1309803680 CA393535985 |
388 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA393535969 rs1392416461 |
390 | N>S | No |
ClinGen gnomAD |
|
|
rs201438433 CA7677833 |
391 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201438433 CA7677832 |
391 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199628078 COSM965256 CA7677834 |
391 | R>W | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393535943 rs1164043774 |
394 | P>L | No |
ClinGen gnomAD |
|
|
rs765631433 CA7677831 |
395 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273793843 rs774411634 |
397 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1196618544 CA393535925 |
397 | A>V | No |
ClinGen gnomAD |
|
|
rs140914739 CA7677828 |
398 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1312827264 CA393535909 |
400 | E>A | No |
ClinGen gnomAD |
|
|
CA7677825 rs758533900 |
400 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677824 rs555294379 |
401 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7677823 rs774565758 |
402 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA393535895 rs1312104667 |
402 | V>L | No |
ClinGen gnomAD |
|
|
CA393535888 rs1346448767 |
403 | Q>R | No |
ClinGen gnomAD |
|
|
rs1380673582 CA393535884 |
404 | G>S | No |
ClinGen gnomAD |
|
|
CA393535864 rs1595975085 |
406 | E>D | No |
ClinGen Ensembl |
|
|
rs1290362168 CA393535870 |
406 | E>K | No |
ClinGen gnomAD |
|
|
CA7677820 rs780007286 |
408 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749109799 CA7677821 |
408 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273793783 rs749109799 |
408 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393535828 rs1481140231 |
411 | P>L | No |
ClinGen gnomAD |
|
|
CA393535819 rs1429296701 |
413 | V>M | No |
ClinGen gnomAD |
|
|
CA393535809 rs1567447188 |
414 | L>P | No |
ClinGen Ensembl |
|
|
rs1434152899 CA393535805 |
415 | L>P | No |
ClinGen TOPMed |
|
|
CA393535798 rs1264360563 |
416 | P>L | No |
ClinGen gnomAD |
|
|
rs1444878510 CA393535803 |
416 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745368214 CA7677818 |
417 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs756054452 CA7677819 |
417 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA393535780 rs1595974961 |
419 | F>S | No |
ClinGen Ensembl |
|
|
rs780633314 CA7677817 |
420 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA273793744 rs200528664 |
422 | R>C | No |
ClinGen gnomAD |
|
|
COSM1374733 CA393535760 rs1324374080 |
422 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1225547530 COSM3771901 CA393535755 |
423 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1328402617 CA393535752 |
423 | R>H | No |
ClinGen gnomAD |
|
|
CA393535750 rs763863737 |
424 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7677814 rs763863737 |
424 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1405011449 CA393535744 |
425 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7677813 rs755355674 |
425 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405011449 CA393535746 |
425 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1016098178 CA393535734 |
427 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7677812 rs766890349 |
427 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677811 rs766890349 |
427 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016098178 CA273793721 |
427 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA393535729 rs1595974745 |
428 | D>A | No |
ClinGen Ensembl |
|
|
CA7677810 rs761147525 COSM1517785 |
428 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA393535723 rs1374433339 |
429 | R>C | No |
ClinGen gnomAD |
|
|
CA7677809 rs773341673 |
429 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393535721 rs773341673 |
429 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393535719 rs1444410000 |
430 | K>E | No |
ClinGen gnomAD |
|
|
CA393535716 rs1241609586 |
430 | K>R | No |
ClinGen gnomAD |
|
|
CA393535711 rs1206152047 |
431 | A>P | No |
ClinGen gnomAD |
|
|
rs1206152047 CA393535710 |
431 | A>T | No |
ClinGen gnomAD |
|
|
rs888845765 CA273793705 |
433 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1039602500 CA273793704 |
434 | V>G | No |
ClinGen Ensembl |
|
|
CA393535677 rs1420997844 |
436 | V>L | No |
ClinGen TOPMed |
|
|
rs1341812239 CA393535672 |
437 | D>N | No |
ClinGen gnomAD |
|
|
rs1244252496 CA393535662 |
438 | E>* | No |
ClinGen gnomAD |
|
|
rs1381810791 CA393535652 |
439 | G>D | No |
ClinGen gnomAD |
|
|
CA7677806 rs376694683 |
440 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7677805 rs768903780 COSM1608718 |
441 | T>M | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7677803 rs775204451 |
442 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA393535631 rs1407698840 |
443 | Q>* | No |
ClinGen gnomAD |
|
|
rs769765831 CA7677802 |
443 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3672116 CA7677800 rs781204435 |
447 | R>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781204435 CA7677801 |
447 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168136601 CA393535603 |
447 | R>W | No |
ClinGen gnomAD |
|
|
CA7677799 rs756779703 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA393535597 rs1185785918 |
448 | A>V | No |
ClinGen gnomAD |
|
|
CA7677797 rs539526244 |
449 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs945687158 CA273793621 |
451 | D>N | No |
ClinGen gnomAD |
|
|
rs754219350 CA7677795 |
452 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7677793 rs568947342 |
453 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA393535567 rs568947342 |
453 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA393535571 rs1289378907 |
453 | P>T | No |
ClinGen gnomAD |
|
|
rs1439843594 CA393535558 |
455 | A>S | No |
ClinGen gnomAD |
|
|
rs1328885556 CA393535545 |
457 | L>F | No |
ClinGen gnomAD |
|
|
rs1404004145 CA393535524 |
460 | S>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 462 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7677789 rs377260390 |
462 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7677788 rs377260390 |
462 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393535495 rs1443417762 |
465 | L>V | No |
ClinGen TOPMed |
|
|
CA393535477 rs372837605 |
468 | A>S | No |
ClinGen gnomAD |
|
|
CA273793562 rs372837605 |
468 | A>T | No |
ClinGen gnomAD |
|
|
rs1364512659 CA393535455 |
471 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393535442 rs1271307474 |
473 | R>Q | No |
ClinGen gnomAD |
|
|
rs1489941017 CA393535443 COSM1374732 |
473 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7677786 rs775785028 |
474 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA393535436 rs1451968839 |
474 | L>P | No |
ClinGen gnomAD |
|
|
CA393535429 rs1235991319 |
475 | T>I | No |
ClinGen TOPMed |
|
|
CA273793553 rs927185942 |
481 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA393535384 rs1279669988 |
483 | E>K | No |
ClinGen gnomAD |
|
|
CA7677783 rs776394148 |
485 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746499302 CA393535356 |
487 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677781 rs746499302 |
487 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405138868 CA393535353 |
487 | A>V | No |
ClinGen gnomAD |
|
|
CA7677780 rs777485996 |
491 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs529899301 CA273793522 |
493 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7677778 rs367638198 |
494 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393535276 COSM269493 rs1431450080 |
499 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1200453719 CA393535273 |
499 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1241351324 CA393535271 |
500 | A>T | No |
ClinGen gnomAD |
|
|
CA7677775 rs750837776 |
501 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7677773 COSM965252 rs757817349 |
502 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7677772 rs751631731 |
502 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7677768 rs759222486 |
504 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1360801294 CA393535247 |
504 | G>D | No |
ClinGen gnomAD |
|
|
CA7677767 rs759222486 |
504 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760763300 CA7677764 |
508 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393535210 rs773291643 |
509 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7677763 rs773291643 |
509 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs747721754 CA393535208 |
510 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677761 rs747721754 |
510 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs778395448 CA7677760 |
511 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs746202555 CA393535174 |
513 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677759 rs768401512 |
513 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 514 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373336312 CA7677757 COSM124121 |
515 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs752005315 CA7677756 |
515 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7677755 rs752005315 |
515 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA393535142 rs1595973710 |
517 | Y>S | No |
ClinGen Ensembl |
|
|
rs1182936877 CA393535127 |
518 | S>L | No |
ClinGen gnomAD |
|
|
rs1264503627 CA393535124 |
519 | P>S | No |
ClinGen gnomAD |
|
|
rs1434162363 CA393535115 |
520 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs368812956 CA393535002 |
529 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs912928791 CA273793274 COSM965250 |
530 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 533 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324975220 CA393534966 |
533 | S>F | No |
ClinGen TOPMed |
|
|
rs1314737333 CA393534954 |
534 | N>K | No |
ClinGen gnomAD |
|
|
CA393534963 rs1366412028 |
534 | N>Y | No |
ClinGen gnomAD |
|
|
rs767527970 CA7677745 |
536 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7677746 rs767527970 |
536 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs111605415 CA7677743 |
537 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393534887 rs1172809065 |
541 | A>D | No |
ClinGen gnomAD |
|
|
CA7677741 rs748871584 |
542 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162664857 CA393534861 |
543 | S>G | No |
ClinGen gnomAD |
|
|
rs997238034 CA273793209 |
543 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 544 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595973381 CA393534849 |
544 | T>P | No |
ClinGen Ensembl |
|
|
rs771236468 CA7677739 |
545 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7677738 rs373538560 |
545 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393534823 rs1480029782 |
546 | A>D | No |
ClinGen gnomAD |
|
|
CA393534828 rs1327849277 |
546 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA393534801 rs1258656374 |
549 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393534761 rs1595973290 |
552 | F>L | No |
ClinGen Ensembl |
|
|
rs748164952 CA7677735 |
553 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393534742 rs1389261782 |
554 | I>V | No |
ClinGen TOPMed |
|
|
CA393534719 rs1595973243 |
556 | T>P | No |
ClinGen Ensembl |
|
|
COSM1374731 rs1244229848 CA393534675 |
560 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA273793166 rs909026729 |
561 | T>S | No |
ClinGen Ensembl |
|
|
CA393534637 rs1314081038 |
563 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 581 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774158790 CA7677726 |
584 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393534358 rs1363421960 |
591 | H>Q | No |
ClinGen TOPMed |
|
|
rs1355814974 CA393534324 |
594 | E>D | No |
ClinGen TOPMed |
|
|
CA7677723 rs775082975 |
594 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393534309 rs1367200227 |
596 | E>K | No |
ClinGen gnomAD |
|
|
rs1239020526 CA393534261 |
600 | R>Q | No |
ClinGen gnomAD |
|
|
rs1287699778 CA393534237 |
602 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs540153471 CA273793114 |
604 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA393534200 rs1344902763 |
606 | I>V | No |
ClinGen gnomAD |
|
|
CA7677717 rs779305547 |
607 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA393534193 COSM3944261 rs779305547 |
607 | S>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs367728067 CA7677715 |
609 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7677713 rs756459126 |
610 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 611 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7677711 rs371235435 |
611 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202223502 CA7677709 |
612 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196875098 CA393534140 |
613 | R>C | No |
ClinGen gnomAD |
|
|
rs368298715 CA273793051 |
613 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368298715 CA393534138 |
613 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA393534112 rs1001008204 |
617 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1001008204 CA273793047 |
617 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs909143998 CA273793045 |
618 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1567444984 CA393534097 |
619 | M>V | No |
ClinGen Ensembl |
1 associated diseases with Q96FE5
[MIM: 618103]: Intellectual developmental disorder, autosomal recessive 64 (MRT64)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech. {ECO:0000269|PubMed:28837161}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech. {ECO:0000269|PubMed:28837161}. Note=The disease is caused by variants affecting the gene represented in this entry.
18 regional properties for Q96FE5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Leucine-rich repeat N-terminal domain | 41 - 75 | IPR000372 |
| repeat | Leucine-rich repeat | 95 - 155 | IPR001611-1 |
| repeat | Leucine-rich repeat | 288 - 309 | IPR001611-2 |
| repeat | Leucine-rich repeat | 312 - 371 | IPR001611-3 |
| repeat | Leucine-rich repeat, typical subtype | 94 - 117 | IPR003591-1 |
| repeat | Leucine-rich repeat, typical subtype | 118 - 141 | IPR003591-2 |
| repeat | Leucine-rich repeat, typical subtype | 142 - 165 | IPR003591-3 |
| repeat | Leucine-rich repeat, typical subtype | 166 - 189 | IPR003591-4 |
| repeat | Leucine-rich repeat, typical subtype | 190 - 213 | IPR003591-5 |
| repeat | Leucine-rich repeat, typical subtype | 214 - 237 | IPR003591-6 |
| repeat | Leucine-rich repeat, typical subtype | 286 - 309 | IPR003591-7 |
| repeat | Leucine-rich repeat, typical subtype | 310 - 333 | IPR003591-8 |
| repeat | Leucine-rich repeat, typical subtype | 334 - 357 | IPR003591-9 |
| domain | Immunoglobulin subtype 2 | 437 - 504 | IPR003598 |
| domain | Immunoglobulin subtype | 431 - 515 | IPR003599 |
| domain | Immunoglobulin-like domain | 411 - 513 | IPR007110 |
| domain | Immunoglobulin I-set | 429 - 514 | IPR013098 |
| repeat | BspA type Leucine rich repeat region | 160 - 278 | IPR026906 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| epidermal growth factor receptor binding | Binding to an epidermal growth factor receptor. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
37 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHH9 | ECM2 | Extracellular matrix protein 2 | Bos taurus (Bovine) | PR |
| P58874 | OPTC | Opticin | Bos taurus (Bovine) | PR |
| Q24K06 | LRRC10 | Leucine-rich repeat-containing protein 10 | Bos taurus (Bovine) | PR |
| Q9V780 | Lap1 | Protein lap1 | Drosophila melanogaster (Fruit fly) | PR |
| Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q8IWT6 | LRRC8A | Volume-regulated anion channel subunit LRRC8A | Homo sapiens (Human) | PR |
| Q9HCJ2 | LRRC4C | Leucine-rich repeat-containing protein 4C | Homo sapiens (Human) | PR |
| Q9UFC0 | LRWD1 | Leucine-rich repeat and WD repeat-containing protein 1 | Homo sapiens (Human) | PR |
| Q96L50 | LRR1 | Leucine-rich repeat protein 1 | Homo sapiens (Human) | PR |
| Q8IWK6 | ADGRA3 | Adhesion G protein-coupled receptor A3 | Homo sapiens (Human) | PR |
| Q7L1W4 | LRRC8D | Volume-regulated anion channel subunit LRRC8D | Homo sapiens (Human) | PR |
| Q8TDW0 | LRRC8C | Volume-regulated anion channel subunit LRRC8C | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| Q96PB8 | LRRC3B | Leucine-rich repeat-containing protein 3B | Homo sapiens (Human) | PR |
| Q86UN2 | RTN4RL1 | Reticulon-4 receptor-like 1 | Homo sapiens (Human) | PR |
| A6H694 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Mus musculus (Mouse) | PR |
| Q9D9Q0 | Lrrc69 | Leucine-rich repeat-containing protein 69 | Mus musculus (Mouse) | PR |
| Q8BGI7 | Lrrc39 | Leucine-rich repeat-containing protein 39 | Mus musculus (Mouse) | PR |
| Q7TT36 | Adgra3 | Adhesion G protein-coupled receptor A3 | Mus musculus (Mouse) | PR |
| P59383 | Lrrn4 | Leucine-rich repeat neuronal protein 4 | Mus musculus (Mouse) | PR |
| Q8R502 | Lrrc8c | Volume-regulated anion channel subunit LRRC8C | Mus musculus (Mouse) | PR |
| Q80WG5 | Lrrc8a | Volume-regulated anion channel subunit LRRC8A | Mus musculus (Mouse) | PR |
| Q8K0S5 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Mus musculus (Mouse) | PR |
| Q80TE7 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Mus musculus (Mouse) | PR |
| Q5DU41 | Lrrc8b | Volume-regulated anion channel subunit LRRC8B | Mus musculus (Mouse) | PR |
| Q5RKR3 | Islr2 | Immunoglobulin superfamily containing leucine-rich repeat protein 2 | Mus musculus (Mouse) | PR |
| Q8C031 | Lrrc4c | Leucine-rich repeat-containing protein 4C | Mus musculus (Mouse) | PR |
| Q9D1T0 | Lingo1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Mus musculus (Mouse) | PR |
| P70587 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Rattus norvegicus (Rat) | PR |
| Q4V8G0 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Rattus norvegicus (Rat) | PR |
| Q80WD0 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9SHI4 | RLP3 | Receptor-like protein 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5G5E0 | PIRL5 | Plant intracellular Ras-group-related LRR protein 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B0JZ65 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q68F79 | lrrc8e | Volume-regulated anion channel subunit LRRC8E | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| B0R160 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQVSKRMLAG | GVRSMPSPLL | ACWQPILLLV | LGSVLSGSAT | GCPPRCECSA | QDRAVLCHRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RFVAVPEGIP | TETRLLDLGK | NRIKTLNQDE | FASFPHLEEL | ELNENIVSAV | EPGAFNNLFN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRTLGLRSNR | LKLIPLGVFT | GLSNLTKLDI | SENKIVILLD | YMFQDLYNLK | SLEVGDNDLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YISHRAFSGL | NSLEQLTLEK | CNLTSIPTEA | LSHLHGLIVL | RLRHLNINAI | RDYSFKRLYR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKVLEISHWP | YLDTMTPNCL | YGLNLTSLSI | THCNLTAVPY | LAVRHLVYLR | FLNLSYNPIS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TIEGSMLHEL | LRLQEIQLVG | GQLAVVEPYA | FRGLNYLRVL | NVSGNQLTTL | EESVFHSVGN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LETLILDSNP | LACDCRLLWV | FRRRWRLNFN | RQQPTCATPE | FVQGKEFKDF | PDVLLPNYFT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CRRARIRDRK | AQQVFVDEGH | TVQFVCRADG | DPPPAILWLS | PRKHLVSAKS | NGRLTVFPDG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLEVRYAQVQ | DNGTYLCIAA | NAGGNDSMPA | HLHVRSYSPD | WPHQPNKTFA | FISNQPGEGE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ANSTRATVPF | PFDIKTLIIA | TTMGFISFLG | VVLFCLVLLF | LWSRGKGNTK | HNIEIEYVPR |
| 610 | |||||
| KSDAGISSAD | APRKFNMKMI |