Q92791
PR
Gene name |
P3H4 |
Protein name |
Endoplasmic reticulum protein SC65 |
Names |
Leprecan-like protein 4, Nucleolar autoantigen No55, Prolyl 3-hydroxylase family member 4, Synaptonemal complex protein SC65 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10609 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q92791
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92791-F1 | Predicted | AlphaFoldDB |
414 variants for Q92791
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8566060 rs782532503 |
3 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782579300 CA8566061 |
3 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8566059 rs781904954 |
4 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA399512090 rs1464638880 |
4 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1555615330 CA399512079 |
5 | A>T | No |
ClinGen gnomAD |
|
|
CA290695165 rs935627330 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs905537844 CA290695136 |
6 | W>* | No |
ClinGen TOPMed |
|
|
CA8566057 rs782127604 |
6 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555615324 CA399512024 |
7 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 8 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8566056 rs781820829 |
10 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399511948 rs1228622359 |
11 | L>S | No |
ClinGen TOPMed |
|
|
CA399511906 rs1309860609 |
14 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399511909 rs1309860609 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399511882 rs1555615317 |
16 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8566054 CA399511867 rs782064602 |
17 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597900632 CA399511858 |
18 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 18 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290695134 rs918063109 |
19 | Q>* | No |
ClinGen TOPMed |
|
|
rs782426618 CA8566051 |
20 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555615301 CA399511793 |
21 | E>D | No |
ClinGen gnomAD |
|
|
CA8566050 rs782122433 |
22 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8566049 rs782009648 |
23 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs868946120 CA399511690 |
26 | R>L | No |
ClinGen TOPMed |
|
|
CA399511700 rs868946120 |
26 | R>Q | No |
ClinGen TOPMed |
|
|
rs782234661 CA8566047 |
26 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA399511687 rs1555615283 |
27 | G>C | No |
ClinGen gnomAD |
|
|
rs1555615283 CA399511685 |
27 | G>S | No |
ClinGen gnomAD |
|
|
CA399511639 rs1175435542 |
29 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1175435542 CA399511637 |
29 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399511622 rs1378347588 |
30 | P>L | No |
ClinGen TOPMed |
|
|
rs200813933 CA8566045 |
31 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1471225452 CA399511619 |
31 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1471225452 CA399511618 |
31 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399511519 rs1555615274 |
35 | P>L | No |
ClinGen gnomAD |
|
|
CA399511529 rs1555615274 |
35 | P>Q | No |
ClinGen gnomAD |
|
|
CA399511526 rs1555615274 |
35 | P>R | No |
ClinGen gnomAD |
|
|
rs1555615277 CA399511538 |
35 | P>S | No |
ClinGen gnomAD |
|
|
CA8566042 rs782499984 |
36 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781872433 CA8566041 |
37 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA399511457 rs974130101 |
39 | A>G | No |
ClinGen TOPMed |
|
|
rs1555615267 CA399511461 |
39 | A>T | No |
ClinGen gnomAD |
|
|
rs974130101 CA290695086 |
39 | A>V | No |
ClinGen TOPMed |
|
|
CA399511435 rs962998684 CA290695083 |
40 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8566040 rs782607420 |
41 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555615262 CA399511412 |
42 | H>D | No |
ClinGen gnomAD |
|
|
CA8566039 rs782478528 |
42 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA8566038 rs781804765 |
43 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399511396 rs781804765 |
43 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399511352 rs782163185 |
46 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8566036 rs782163185 |
46 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs781857843 CA8566035 |
48 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399511311 rs955339258 |
49 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs782783132 CA8566034 |
49 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA290695066 rs955339258 |
49 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782090557 CA290695060 |
50 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs782090557 CA8566033 |
50 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555615251 CA399511284 |
51 | S>I | No |
ClinGen gnomAD |
|
|
rs782720051 CA8566031 |
52 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs546832339 CA290695050 |
52 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8566032 rs546832339 |
52 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399511249 COSM706347 rs1244824462 |
54 | E>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA399511228 rs1555615248 |
55 | S>I | No |
ClinGen gnomAD |
|
|
rs782054576 CA8566030 |
55 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290695044 rs1010043425 |
56 | A>G | No |
ClinGen gnomAD |
|
|
CA399511208 rs1190872626 |
57 | R>C | No |
ClinGen TOPMed |
|
|
CA399511205 rs1268084092 |
57 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782411275 CA8566028 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399511129 rs1555615242 |
63 | L>P | No |
ClinGen gnomAD |
|
|
CA290695023 rs1032730590 |
64 | R>Q | No |
ClinGen TOPMed |
|
|
rs781997464 CA8566026 |
66 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290695012 rs999981826 |
67 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1161724339 CA399511089 |
67 | R>P | No |
ClinGen TOPMed |
|
|
CA399511092 rs999981826 |
67 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA399511080 rs1555615234 |
68 | L>F | No |
ClinGen gnomAD |
|
|
CA399511057 rs1555615231 |
70 | R>H | No |
ClinGen gnomAD |
|
|
CA399511050 rs782230442 |
71 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8566025 rs782230442 |
71 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782230442 CA8566024 |
71 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399511019 rs1348540771 |
73 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8566021 rs782292684 |
76 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782646986 CA8566020 |
77 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399510939 rs1346806867 |
78 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399510916 rs1287589009 |
80 | C>Y | No |
ClinGen TOPMed |
|
|
CA8566019 rs551401495 |
81 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399510894 rs1555615219 |
81 | S>R | No |
ClinGen gnomAD |
|
|
CA399510869 rs1225461583 |
83 | P>L | No |
ClinGen TOPMed |
|
|
CA399510839 rs1555615215 |
86 | A>V | No |
ClinGen gnomAD |
|
|
CA399510835 rs1555615213 |
87 | A>T | No |
ClinGen gnomAD |
|
|
rs781827205 CA8566018 |
87 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399510779 rs1180089028 |
91 | P>S | No |
ClinGen TOPMed |
|
|
rs781797091 CA8566015 |
93 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA399510732 rs1555615206 |
95 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8566012 rs567524231 |
98 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179510844 CA399510691 |
98 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 99 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399510644 rs1555615202 |
101 | C>Y | No |
ClinGen gnomAD |
|
|
CA8566009 rs782081619 |
103 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555615200 CA399510606 |
104 | R>Q | No |
ClinGen gnomAD |
|
|
CA399510584 rs1367070306 |
106 | F>C | No |
ClinGen TOPMed |
|
|
rs782310056 CA8566007 |
107 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA399510560 rs562672306 |
108 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8566005 rs562672306 |
108 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs955568365 CA290694948 |
111 | E>G | No |
ClinGen gnomAD |
|
|
rs782262900 COSM3672448 CA8566003 |
112 | R>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782262900 CA399510513 |
112 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782262900 CA399510511 |
112 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8566002 rs782598221 |
113 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555615192 CA399510483 |
115 | C>Y | No |
ClinGen gnomAD |
|
|
rs544321847 CA8566000 |
117 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782530968 CA399510450 |
118 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781895844 CA8565997 |
118 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs781895844 CA399510445 |
118 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782530968 CA8565998 |
118 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555615184 CA399510409 |
121 | R>L | No |
ClinGen gnomAD |
|
|
CA290694923 rs758108156 |
121 | R>W | No |
ClinGen TOPMed |
|
|
rs1567850849 CA8565994 |
122 | T>M | No |
ClinGen Ensembl |
|
|
CA8565995 rs782509411 |
122 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8565992 rs782745292 |
123 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA399510376 rs370335745 |
124 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370335745 CA8565991 |
124 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8565989 rs201256445 |
125 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399510350 rs1447253078 |
126 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs529456250 CA8565988 |
126 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167631147 CA399510334 |
128 | V>M | No |
ClinGen TOPMed |
|
|
CA8565986 rs782337160 |
129 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399510308 rs1555615153 |
130 | Y>C | No |
ClinGen gnomAD |
|
|
CA399510309 rs1555615153 |
130 | Y>S | No |
ClinGen gnomAD |
|
|
CA8565984 rs781912747 |
131 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs782089756 CA8565985 |
131 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8565983 rs200433757 |
133 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200433757 CA8565982 |
133 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555615144 CA399510277 |
133 | R>W | No |
ClinGen gnomAD |
|
|
CA8565980 rs782381020 |
137 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013898749 CA290694904 |
137 | R>L | No |
ClinGen Ensembl |
|
|
rs1597899988 CA399510226 |
138 | D>N | No |
ClinGen Ensembl |
|
|
rs1555615143 CA399510175 |
141 | S>N | No |
ClinGen gnomAD |
|
|
rs1555615142 CA399510159 |
142 | R>H | No |
ClinGen gnomAD |
|
|
CA399510144 rs1555615141 |
144 | P>S | No |
ClinGen gnomAD |
|
|
CA399510127 rs1555615138 |
145 | Y>C | No |
ClinGen gnomAD |
|
|
rs1567850753 CA399510117 |
146 | Q>* | No |
ClinGen Ensembl |
|
|
rs782485363 CA8565978 |
146 | Q>A | No |
ClinGen ExAC |
|
|
CA399510083 rs1362822939 |
148 | L>Q | No |
ClinGen TOPMed |
|
|
CA8565976 rs782597825 |
150 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399510015 CA8565975 rs199832526 |
153 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555615131 CA399510003 |
154 | K>R | No |
ClinGen gnomAD |
|
|
rs782801961 CA8565947 |
156 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782801961 CA399509921 |
156 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs371580332 CA399509913 |
157 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781861853 CA8565945 |
157 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399509908 rs781861853 |
157 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371580332 CA8565946 |
157 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405642746 CA399509856 |
161 | A>V | No |
ClinGen TOPMed |
|
|
CA399509847 rs1555615057 |
162 | V>A | Variant assessed as Somatic; 4.69e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8565941 rs782691768 |
162 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs557056715 CA8565940 |
163 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8565939 rs140054771 |
163 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399509807 rs1555615048 |
166 | Y>D | No |
ClinGen gnomAD |
|
|
rs781946892 CA8565936 |
167 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782262200 CA8565937 |
167 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555615046 CA399509764 |
169 | L>F | No |
ClinGen gnomAD |
|
|
CA399509757 rs1555615044 |
170 | Q>K | No |
ClinGen gnomAD |
|
|
CA8565935 rs782357317 |
173 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8565934 rs200613170 |
173 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399509703 rs1353312512 |
174 | K>E | No |
ClinGen TOPMed |
|
|
rs1555615035 CA399509685 |
175 | H>D | No |
ClinGen gnomAD |
|
|
rs1207653916 CA399509667 |
176 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA399509663 rs1207653916 |
176 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399509625 rs1555615030 |
178 | T>I | No |
ClinGen gnomAD |
|
|
CA399509600 rs1200946350 |
180 | K>R | No |
ClinGen TOPMed |
|
|
CA399509568 rs1555615029 |
182 | L>F | No |
ClinGen gnomAD |
|
|
COSM1189468 CA8565931 rs782522085 |
183 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8565930 rs782282402 |
184 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565928 rs371239589 |
185 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8565929 rs782634156 |
185 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565926 rs568200236 |
186 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399509480 rs13412 |
186 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399509484 rs13412 |
186 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8565925 rs13412 VAR_020417 |
186 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1567850489 CA626216223 |
186 | Q>R | No |
ClinGen Ensembl |
|
|
CA399509433 rs1425606295 |
188 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399509388 rs1555615006 |
191 | V>I | No |
ClinGen gnomAD |
|
|
rs897440302 CA399509373 |
192 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs897440302 CA290694730 |
192 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399509363 rs1555615000 |
193 | D>N | No |
ClinGen gnomAD |
|
|
CA399509338 rs374170886 |
194 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399509334 rs1308372782 |
194 | E>A | No |
ClinGen TOPMed |
|
|
rs374170886 CA8565923 |
194 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399509340 rs374170886 |
194 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399509301 rs1337831351 |
195 | S>Y | No |
ClinGen TOPMed |
|
|
rs1555614996 CA399509293 |
196 | L>F | No |
ClinGen gnomAD |
|
|
CA399509281 rs1284038450 |
197 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8565922 rs201546474 |
197 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8565921 rs201546474 |
197 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1224308515 CA399509263 |
198 | D>G | No |
ClinGen TOPMed |
|
|
rs782718176 CA8565920 |
200 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555614987 CA399509238 |
200 | E>K | No |
ClinGen gnomAD |
|
|
rs1555614986 CA399509204 |
201 | A>V | No |
ClinGen gnomAD |
|
|
rs782098222 CA399509186 |
202 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs781917869 CA8565918 |
204 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs782321072 CA8565916 |
205 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782321072 CA399509143 |
205 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399509039 rs1246435620 |
207 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs1185578619 CA399509046 |
207 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs1171220646 CA399508992 |
210 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399508995 rs1428198564 |
210 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
COSM3720616 CA399508979 rs1555614951 |
211 | A>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1555614950 CA399508966 |
211 | A>V | No |
ClinGen gnomAD |
|
|
rs149794758 CA290694646 CA8565892 |
212 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8565891 rs373896625 |
214 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399508929 rs373896625 |
214 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399508936 rs1176369917 |
214 | L>V | No |
ClinGen TOPMed |
|
|
rs1360828632 CA399508914 |
215 | Y>C | No |
ClinGen TOPMed |
|
|
rs150612346 CA290694637 |
218 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399508869 COSM1323960 rs1555614942 |
218 | G>R | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA399508857 rs1555614939 |
219 | D>N | No |
ClinGen gnomAD |
|
|
rs1309956910 CA399508812 |
221 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs375223765 CA8565888 |
221 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8565887 rs375223765 |
221 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA290694634 rs934664359 |
222 | S>G | No |
ClinGen Ensembl |
|
|
rs782392118 CA8565885 |
223 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs782205826 CA399508743 |
224 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs782205826 CA8565884 |
224 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA399508751 rs1555614931 |
224 | T>S | No |
ClinGen gnomAD |
|
|
CA8565880 rs781798772 |
226 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA399508666 rs1555614916 |
228 | E>K | No |
ClinGen gnomAD |
|
|
CA399508642 rs1263682089 |
229 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1263682089 CA399508645 |
229 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781872983 CA8565879 |
229 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369845186 CA8565878 |
230 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782787904 CA8565874 |
233 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs376049952 CA8565872 |
234 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782092372 CA8565873 |
234 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1555614913 CA399508552 |
234 | Y>H | No |
ClinGen gnomAD |
|
|
rs782066408 CA8565870 |
237 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782719016 CA8565871 |
237 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs550620446 CA399508463 |
239 | A>P | No |
ClinGen 1000Genomes TOPMed |
|
|
rs550620446 CA399508460 |
239 | A>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA399508465 rs550620446 |
239 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1430628397 CA399508437 |
240 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399508442 rs1430628397 |
240 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8565869 rs139974053 |
240 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471277042 CA399508428 |
241 | C>Y | No |
ClinGen TOPMed |
|
|
CA399508385 rs1555614904 |
243 | A>V | No |
ClinGen gnomAD |
|
|
rs782424239 CA8565868 |
244 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782499118 CA8565867 |
245 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399508330 rs1453952361 |
246 | E>D | No |
ClinGen TOPMed |
|
|
rs1025922741 CA290694559 |
249 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA399508224 rs1597898885 |
252 | V>G | No |
ClinGen Ensembl |
|
|
CA8565866 rs781954019 |
252 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142576139 CA290694550 |
254 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8565865 rs146020969 |
254 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8565861 rs144511130 |
256 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761015891 CA8565859 |
257 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565860 rs764262576 |
257 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565856 rs528768906 |
259 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8565857 rs528768906 |
259 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399508080 rs528768906 |
259 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782788780 CA8565854 |
260 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8565853 rs782566597 |
262 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA399506583 rs540723159 |
266 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8565825 rs540723159 |
266 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1232624313 CA399506581 |
266 | A>V | No |
ClinGen TOPMed |
|
|
rs781929245 CA8565824 |
268 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1458496961 CA399506465 |
271 | C>Y | No |
ClinGen TOPMed |
|
|
rs782331376 CA8565823 |
272 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8565822 rs782156233 |
273 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8565821 rs782038572 |
274 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782373074 CA8565820 |
275 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399506357 rs782373074 |
275 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399506319 rs538541786 |
277 | A>D | No |
ClinGen gnomAD |
|
|
rs538541786 CA290691847 |
277 | A>G | No |
ClinGen gnomAD |
|
|
rs768042232 CA290691844 |
280 | T>I | No |
ClinGen Ensembl |
|
|
CA8565818 rs782595857 |
281 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565816 rs782197232 |
282 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782305421 CA8565817 |
282 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555614695 CA399506249 |
282 | N>Y | No |
ClinGen gnomAD |
|
|
CA399506171 rs1415394400 |
284 | G>A | No |
ClinGen TOPMed |
|
|
CA399506158 rs868906713 |
285 | G>D | No |
ClinGen gnomAD |
|
|
CA399506162 rs868906713 |
285 | G>V | No |
ClinGen gnomAD |
|
|
CA8565814 rs782547590 |
288 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565812 rs782651356 |
289 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8565813 rs781849704 |
289 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782457193 CA399505990 |
291 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467007490 CA399506008 |
291 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8565810 rs371401688 COSM2154210 |
292 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782698241 CA8565809 |
293 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399505922 rs1213255724 |
295 | M>R | No |
ClinGen TOPMed |
|
|
rs782073173 CA8565808 |
295 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8565806 rs138037604 |
297 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399505848 rs1319280597 |
298 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8565804 rs782120875 |
302 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782000785 CA8565803 |
303 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1567849455 CA399505759 |
303 | Y>H | No |
ClinGen Ensembl |
|
|
rs782343197 CA8565802 |
304 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8565801 rs782044375 |
305 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8565800 rs145781561 |
306 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8565784 rs782703773 |
307 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565783 rs782145210 |
308 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555614450 CA399505403 |
309 | V>M | No |
ClinGen Ensembl |
|
|
CA8565781 rs141914176 |
310 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs551655243 CA8565780 |
310 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555614445 CA399505361 |
312 | A>T | No |
ClinGen gnomAD |
|
|
CA399505327 rs1185569090 |
313 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA290691207 rs782134532 |
314 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782134532 CA8565779 |
314 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138564388 CA8565778 |
314 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8565777 rs782189430 |
315 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201190522 CA8565775 |
316 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201190522 CA8565774 COSM1264902 |
316 | A>T | Variant assessed as Somatic; 4.624e-05 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs782520454 CA399505275 |
317 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565772 rs782520454 |
317 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782622585 CA8565770 |
320 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA399505171 rs1393759829 |
321 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 321 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781861931 CA290691186 |
323 | D>H | No |
ClinGen TOPMed |
|
|
CA399505122 rs781861931 |
323 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 324 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235073187 CA399505068 |
327 | S>G | No |
ClinGen TOPMed |
|
|
rs782818872 CA8565767 |
328 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218195697 CA399505041 |
329 | M>T | No |
ClinGen TOPMed |
|
|
rs1258924545 CA399505035 |
330 | Q>K | No |
ClinGen TOPMed |
|
|
CA8565766 rs782494702 |
330 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8565765 rs781864830 |
332 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1341779099 CA399504974 |
334 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399504973 rs1341779099 |
334 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782721726 CA8565764 |
336 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs375672047 CA399504925 |
337 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375522146 CA8565762 |
337 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8565763 rs375672047 |
337 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8565759 rs200738812 |
340 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8565760 rs782149319 |
340 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399504830 rs1555614409 |
341 | A>V | No |
ClinGen gnomAD |
|
|
CA290691161 rs561408227 |
342 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8565758 rs782752371 |
342 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA290691152 rs782752371 |
342 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399504807 rs1555614401 |
343 | W>R | No |
ClinGen gnomAD |
|
|
rs782363129 CA8565755 |
344 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8565756 rs781955319 |
344 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782665602 CA8565753 |
347 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782549075 CA8565752 |
348 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371951268 CA8565751 |
352 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555614390 CA399504657 |
352 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782635662 CA8565750 |
353 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915098787 CA290691135 |
353 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1555614265 CA399504544 |
357 | M>V | No |
ClinGen gnomAD |
|
|
rs1555614263 CA399504528 |
358 | L>F | No |
ClinGen gnomAD |
|
|
rs781836884 CA8565723 |
361 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs781836884 CA399504486 |
361 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs111757022 CA290690678 |
363 | T>N | No |
ClinGen Ensembl |
|
|
CA399504464 rs1597895672 |
363 | T>P | No |
ClinGen Ensembl |
|
|
rs375775038 CA399504450 |
364 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375775038 CA8565721 |
364 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399504438 rs1381811792 |
365 | E>G | No |
ClinGen TOPMed |
|
|
rs958175874 CA290690671 |
365 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1189467 CA8565718 rs782133230 |
367 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8565719 COSM292276 rs186874945 |
367 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8565717 rs569090675 |
368 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8565714 rs782045302 |
373 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782423631 CA8565712 |
375 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555614251 CA399504310 |
376 | Y>* | No |
ClinGen gnomAD |
|
|
rs1555614256 CA399504313 |
376 | Y>C | No |
ClinGen gnomAD |
|
|
CA399504315 rs1555614256 |
376 | Y>F | No |
ClinGen gnomAD |
|
|
rs200185932 CA8565711 |
377 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527722034 CA290690646 |
380 | D>G | No |
ClinGen Ensembl |
|
|
CA8565709 rs782400093 |
381 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA399504250 rs1555614239 |
382 | E>G | No |
ClinGen gnomAD |
|
|
rs782617088 CA8565707 |
382 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399502845 rs1291598688 |
383 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399502711 rs1555613787 |
388 | T>K | No |
ClinGen gnomAD |
|
|
rs1597892908 CA399502667 |
389 | E>D | No |
ClinGen Ensembl |
|
|
CA8565678 rs781875731 |
390 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1325757385 CA399502601 |
391 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1555613778 CA399502559 |
393 | E>D | No |
ClinGen gnomAD |
|
|
CA399502451 rs1555613777 |
397 | A>V | No |
ClinGen gnomAD |
|
|
CA8565671 rs782383241 |
401 | A>D | No |
ClinGen ExAC |
|
|
CA8565672 rs781860343 |
401 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA290689562 rs947504570 |
402 | E>* | No |
ClinGen TOPMed |
|
|
CA399502362 rs947504570 |
402 | E>K | No |
ClinGen TOPMed |
|
|
CA8565669 rs782087488 |
404 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399502270 rs1471289081 |
405 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8565668 rs782304263 |
406 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399502164 rs1555613758 |
409 | Y>C | No |
ClinGen gnomAD |
|
|
rs574846777 CA8565664 |
410 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782244634 CA8565662 |
412 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1162658703 CA399502050 |
413 | M>I | No |
ClinGen TOPMed |
|
|
CA399502057 rs1555613751 |
413 | M>T | No |
ClinGen gnomAD |
|
|
rs1555613749 CA399501976 |
416 | D>E | No |
ClinGen gnomAD |
|
|
rs1405404913 CA399501968 |
417 | W>* | No |
ClinGen TOPMed |
|
|
CA8565661 rs782664786 |
417 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782470639 CA8565659 |
418 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782470639 CA399501943 |
418 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399501936 rs781846379 |
419 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781846379 CA8565658 |
419 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555613748 CA399501921 |
420 | E>K | No |
ClinGen Ensembl |
|
|
CA8565657 rs782559891 |
421 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781890243 CA8565655 |
422 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555613744 CA399501819 |
423 | A>V | No |
ClinGen gnomAD |
|
|
rs183381640 CA8565653 |
426 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541534928 CA8565651 |
427 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374207592 CA399501679 |
428 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 428 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781926694 CA8565649 |
429 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555613705 CA399501468 |
431 | E>G | No |
ClinGen gnomAD |
|
|
CA8565628 rs782137328 |
432 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 433 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781896114 CA8565627 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8565626 rs782759557 |
436 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA8565624 rs532282174 |
437 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532282174 CA8565625 |
437 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q92791
No regional properties for Q92791
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92791 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic complex | A protein complex which is capable of catalytic activity. |
| condensed nuclear chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| synaptonemal complex | A proteinaceous scaffold found between homologous chromosomes during meiosis. It consists of 2 lateral elements and a central element, all running parallel to each other. Transverse filaments connect the lateral elements to the central element. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| bone remodeling | The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. |
| collagen biosynthetic process | The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| collagen fibril organization | Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. |
| peptidyl-lysine hydroxylation | The hydroxylation of peptidyl-lysine to form peptidyl-hydroxylysine. |
| synaptonemal complex assembly | The cell cycle process in which the synaptonemal complex is formed. This is a structure that holds paired chromosomes together during prophase I of meiosis and that promotes genetic recombination. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARVAWGLLW | LLLGSAGAQY | EKYSFRGFPP | EDLMPLAAAY | GHALEQYEGE | SWRESARYLE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AALRLHRLLR | DSEAFCHANC | SGPAPAAKPD | PDGGRADEWA | CELRLFGRVL | ERAACLRRCK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RTLPAFQVPY | PPRQLLRDFQ | SRLPYQYLHY | ALFKANRLEK | AVAAAYTFLQ | RNPKHELTAK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YLNYYQGMLD | VADESLTDLE | AQPYEAVFLR | AVKLYNSGDF | RSSTEDMERA | LSEYLAVFAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CLAGCEGAHE | QVDFKDFYPA | IADLFAESLQ | CKVDCEANLT | PNVGGYFVDK | FVATMYHYLQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FAYYKLNDVR | QAARSAASYM | LFDPKDSVMQ | QNLVYYRFHR | ARWGLEEEDF | QPREEAMLYH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NQTAELRELL | EFTHMYLQSD | DEMELEETEP | PLEPEDALSD | AEFEGEGDYE | EGMYADWWQE |
| 430 | |||||
| PDAKGDEAEA | EPEPELA |