Q02930
Gene name |
CREB5 (CREBPA) |
Protein name |
Cyclic AMP-responsive element-binding protein 5 |
Names |
CREB-5 , cAMP-responsive element-binding protein 5 , cAMP-response element-binding protein A , CRE-BPa |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9586 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
0-99 (Activation domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Li XY et al. (1996) "Intramolecular inhibition of activating transcription factor-2 function by its DNA-binding domain", Genes & development, 10, 517-27
- Laughlin JD et al. (2012) "Structural mechanisms of allostery and autoinhibition in JNK family kinases", Structure (London, England : 1993), 20, 2174-84
Autoinhibited structure

Activated structure

1 structures for Q02930
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q02930-F1 | Predicted | AlphaFoldDB |
545 variants for Q02930
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs756283622 | 2 | I>F | No |
ExAC TOPMed gnomAD |
|
rs1156456267 | 5 | E>K | No | gnomAD | |
rs1364059421 | 6 | S>A | No | gnomAD | |
rs1791651685 | 6 | S>C | No |
TOPMed gnomAD |
|
rs562749374 | 7 | K>M | No |
1000Genomes ExAC gnomAD |
|
TCGA novel | 7 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs562749374 | 7 | K>R | No |
1000Genomes ExAC gnomAD |
|
rs1791652065 | 10 | L>S | No | Ensembl | |
rs778707865 | 11 | E>Q | No |
ExAC TOPMed gnomAD |
|
COSM746283 | 13 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1353559147 | 14 | R>K | No | gnomAD | |
rs137912652 | 15 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1011841644 COSM1698459 |
15 | P>S | skin [Cosmic] | No |
cosmic curated TOPMed |
rs773138764 | 17 | V>I | No |
ExAC TOPMed gnomAD |
|
rs760528660 | 18 | C>F | No |
ExAC gnomAD |
|
rs1216073462 | 21 | P>L | No | TOPMed | |
COSM6177719 | 21 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1791654199 | 22 | G>V | No | Ensembl | |
rs754986749 | 26 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs765299339 | 26 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs765299339 | 26 | R>P | No |
ExAC TOPMed gnomAD |
|
rs1194561018 | 27 | F>L | No |
TOPMed gnomAD |
|
rs1791961328 | 27 | F>S | No | TOPMed | |
rs1330745754 | 31 | D>G | No |
TOPMed gnomAD |
|
rs763712573 | 31 | D>N | No | Ensembl | |
rs777663588 | 32 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs1448242659 | 33 | L>P | No | TOPMed | |
rs1448242659 | 33 | L>Q | No | TOPMed | |
rs746742237 | 34 | M>V | No |
ExAC gnomAD |
|
rs757241986 | 35 | I>V | No |
ExAC gnomAD |
|
rs569232806 | 36 | H>P | No |
1000Genomes gnomAD |
|
rs569232806 | 36 | H>R | No |
1000Genomes gnomAD |
|
COSM4817156 | 36 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1379780835 | 37 | R>G | No |
TOPMed gnomAD |
|
rs781219951 | 38 | H>Q | No |
ExAC gnomAD |
|
rs1403124863 | 38 | H>Y | No | TOPMed | |
rs1424207030 | 39 | K>N | No | gnomAD | |
TCGA novel | 39 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1791964433 | 40 | H>Y | No | Ensembl | |
rs745795118 | 42 | M>I | No |
ExAC gnomAD |
|
rs1791964639 | 42 | M>T | No | Ensembl | |
rs769485767 | 44 | L>S | No |
ExAC gnomAD |
|
rs1791965264 | 45 | K>E | No | Ensembl | |
rs1055784864 | 45 | K>N | No | Ensembl | |
rs1388855689 | 45 | K>T | No | gnomAD | |
COSM1698460 | 47 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs80296494 | 48 | S>* | No | Ensembl | |
rs775117095 | 49 | I>L | No |
ExAC TOPMed gnomAD |
|
rs775117095 COSM310322 |
49 | I>V | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1163533868 | 51 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1280676855 | 51 | T>R | No |
TOPMed gnomAD |
|
COSM1313007 | 52 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs530130087 | 53 | N>D | No |
1000Genomes ExAC gnomAD |
|
rs1263158787 | 53 | N>I | No | gnomAD | |
rs764412503 | 54 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1791968407 | 54 | M>L | No | gnomAD | |
rs1791968601 | 54 | M>T | No | TOPMed | |
rs145890705 | 58 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1263624985 | 58 | Q>P | No | gnomAD | |
rs760077074 COSM3027603 |
60 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM3637781 | 60 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1792533732 | 61 | T>I | No | TOPMed | |
rs764383622 | 63 | T>A | No |
ExAC gnomAD |
|
rs762102181 COSM3027604 |
63 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs764383622 | 63 | T>P | No |
ExAC gnomAD |
|
rs756142208 | 64 | R>K | No |
ExAC gnomAD |
|
rs780080880 | 65 | F>L | No |
ExAC gnomAD |
|
rs138761343 | 66 | L>P | No |
ESP TOPMed gnomAD |
|
COSM1088926 rs937186996 |
70 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1792536213 | 71 | E>K | No | gnomAD | |
rs1792536526 | 72 | V>A | No | Ensembl | |
rs754514486 | 72 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1792536685 | 73 | G>D | No | TOPMed | |
rs1227283667 | 74 | L>P | No | TOPMed | |
rs200202352 | 76 | S>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1207698224 | 77 | E>* | No |
TOPMed gnomAD |
|
rs550409575 | 77 | E>D | No |
TOPMed gnomAD |
|
rs1207698224 | 77 | E>K | No |
TOPMed gnomAD |
|
rs1792538012 | 79 | D>E | No | TOPMed | |
rs2128606832 | 79 | D>N | No | Ensembl | |
COSM3923454 | 81 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1792538169 | 82 | L>P | No | gnomAD | |
rs747555411 | 84 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs770302370 | 84 | H>R | No |
ExAC gnomAD |
|
rs746185795 | 84 | H>Y | No |
ExAC gnomAD |
|
COSM5872558 | 85 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1456264053 | 87 | R>G | No |
TOPMed gnomAD |
|
rs763500648 | 88 | K>E | No |
ExAC gnomAD |
|
rs1161603517 | 88 | K>R | No |
TOPMed gnomAD |
|
rs768663791 | 89 | A>P | No |
ExAC TOPMed gnomAD |
|
rs768663791 | 89 | A>T | No |
ExAC TOPMed gnomAD |
|
rs575115266 | 90 | Q>L | No |
1000Genomes ExAC gnomAD |
|
rs575115266 | 90 | Q>R | No |
1000Genomes ExAC gnomAD |
|
rs1562763639 | 91 | E>Q | No |
TOPMed gnomAD |
|
rs1792540794 | 92 | E>K | No | gnomAD | |
rs1297161705 | 93 | E>D | No | gnomAD | |
rs1792541083 | 93 | E>G | No | Ensembl | |
rs1397473732 | 94 | S>T | No | gnomAD | |
rs2128606887 | 95 | S>N | No | Ensembl | |
rs760478767 | 96 | K>Q | No |
ExAC TOPMed gnomAD |
|
COSM3832600 | 97 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs142741982 | 97 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs142741982 COSM5710531 |
97 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM175166 rs766189534 |
97 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1795646866 | 98 | N>K | No | Ensembl | |
rs1795646734 | 98 | N>S | No | gnomAD | |
rs895022850 | 99 | I>V | No |
TOPMed gnomAD |
|
rs751259024 | 100 | S>L | No |
ExAC TOPMed gnomAD |
|
rs961310435 | 102 | H>D | No |
TOPMed gnomAD |
|
rs961310435 | 102 | H>N | No |
TOPMed gnomAD |
|
rs1489030792 | 102 | H>P | No | gnomAD | |
rs1489030792 | 102 | H>R | No | gnomAD | |
rs780310291 | 103 | N>S | No |
ExAC gnomAD |
|
rs1479084110 | 104 | A>V | No |
TOPMed gnomAD |
|
COSM270696 | 105 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs148124349 | 106 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1583645511 | 106 | G>V | No | Ensembl | |
TCGA novel | 107 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1412415685 | 108 | A>P | No |
TOPMed gnomAD |
|
rs1412415685 | 108 | A>S | No |
TOPMed gnomAD |
|
rs1795649178 | 109 | M>K | No | Ensembl | |
rs779409043 | 109 | M>L | No |
ExAC gnomAD |
|
rs779409043 | 109 | M>V | No |
ExAC gnomAD |
|
rs114327290 | 110 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs114327290 | 110 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1698461 | 111 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1448196915 | 112 | P>S | No | Ensembl | |
rs143789664 | 113 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1355693532 | 114 | T>A | No | gnomAD | |
rs776313239 | 114 | T>I | No |
ExAC TOPMed gnomAD |
|
rs776313239 | 114 | T>N | No |
ExAC TOPMed gnomAD |
|
rs1264704055 | 115 | H>Y | No |
TOPMed gnomAD |
|
rs759322003 | 117 | L>F | No |
ExAC gnomAD |
|
rs765095165 | 117 | L>P | No |
ExAC TOPMed gnomAD |
|
COSM6177718 | 118 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1216425602 | 118 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1795651461 | 119 | S>I | No | TOPMed | |
rs557766445 | 119 | S>R | No |
ExAC TOPMed gnomAD |
|
rs762867307 | 120 | A>P | No |
ExAC gnomAD |
|
rs762867307 | 120 | A>S | No |
ExAC gnomAD |
|
rs762867307 | 120 | A>T | No |
ExAC gnomAD |
|
rs116248568 | 121 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs116248568 | 121 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs761100378 COSM1488503 |
121 | R>W | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs767135866 | 122 | L>M | No |
ExAC gnomAD |
|
rs1795652669 | 124 | N>D | No | TOPMed | |
rs1338736806 | 124 | N>K | No | TOPMed | |
rs1044493052 | 125 | H>N | No |
TOPMed gnomAD |
|
rs754158273 | 125 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1408946952 | 126 | D>E | No |
TOPMed gnomAD |
|
rs1329992408 | 127 | T>N | No | TOPMed | |
rs755436114 | 128 | N>D | No |
ExAC TOPMed gnomAD |
|
COSM6110112 | 128 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1795653498 | 128 | N>S | No | Ensembl | |
rs976850317 | 129 | V>A | No |
TOPMed gnomAD |
|
rs976850317 | 129 | V>D | No |
TOPMed gnomAD |
|
rs748715346 | 129 | V>F | No |
ExAC gnomAD |
|
rs748715346 | 129 | V>I | No |
ExAC gnomAD |
|
rs758944555 | 131 | I>F | No |
ExAC TOPMed gnomAD |
|
rs1362199882 | 131 | I>T | No | gnomAD | |
rs1366147223 | 133 | Q>L | No | Ensembl | |
rs1333467776 | 135 | M>I | No | gnomAD | |
rs1795654914 | 135 | M>V | No | Ensembl | |
COSM268300 rs555693522 |
136 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs555693522 | 136 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs746075945 | 137 | S>L | No |
ExAC TOPMed gnomAD |
|
rs1795655907 | 139 | Q>* | No | Ensembl | |
rs367885203 | 141 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
rs762906403 | 141 | S>R | No |
ExAC gnomAD |
|
rs1795656499 | 143 | V>I | No | Ensembl | |
rs1795656499 | 143 | V>L | No | Ensembl | |
COSM131375 rs1795656649 |
144 | I>V | liver [Cosmic] | No |
cosmic curated TOPMed |
rs1278556027 | 147 | A>E | No | gnomAD | |
rs1217739953 | 147 | A>T | No | gnomAD | |
rs1341098594 | 148 | P>S | No | gnomAD | |
rs75512111 | 149 | S>P | No | Ensembl | |
rs1795657525 COSM1284298 |
150 | T>I | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs375100511 | 151 | N>K | No |
ESP TOPMed gnomAD |
|
rs374897586 | 152 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs114450022 | 152 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM382457 | 152 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1176366238 | 153 | Q>K | No |
TOPMed gnomAD |
|
rs750146422 | 154 | I>M | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs573930655 |
155 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
rs1297312538 | 156 | P>S | No |
TOPMed gnomAD |
|
rs774552213 | 157 | V>F | No |
ExAC TOPMed gnomAD |
|
rs1802848252 | 158 | P>S | No | Ensembl | |
rs767852009 | 160 | S>F | No |
ExAC gnomAD |
|
rs1164662321 | 162 | S>C | No | gnomAD | |
rs766432963 | 165 | L>I | No |
ExAC gnomAD |
|
rs1033700925 | 165 | L>P | No | Ensembl | |
rs755160320 | 168 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs535984244 | 172 | R>S | No | Ensembl | |
rs1394949482 | 173 | Q>* | No | gnomAD | |
rs552519767 | 174 | P>A | No | gnomAD | |
rs747849801 | 174 | P>R | No |
ExAC gnomAD |
|
rs552519767 | 174 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs758370336 | 179 | M>I | No |
ExAC gnomAD |
|
COSM5004425 COSM5004426 |
181 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs746942902 | 182 | T>A | No |
ExAC TOPMed gnomAD |
|
rs770627018 | 184 | P>S | No |
ExAC TOPMed gnomAD |
|
rs1482849816 | 185 | N>K | No | gnomAD | |
rs1200013563 | 186 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs370957432 | 187 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
rs1425818986 | 187 | T>K | No | gnomAD | |
TCGA novel | 188 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs147548735 COSM109813 |
192 | S>F | skin [Cosmic] | No |
cosmic curated Ensembl |
rs774789053 | 193 | A>S | No |
ExAC TOPMed gnomAD |
|
rs774789053 | 193 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1802859265 | 194 | V>A | No | gnomAD | |
rs762012177 COSM1734146 COSM1734145 |
194 | V>I | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1802859445 | 197 | P>S | No |
TOPMed gnomAD |
|
rs1378557699 | 198 | M>T | No | gnomAD | |
rs757232924 | 199 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1179377964 | 200 | R>* | No | gnomAD | |
rs368604817 | 200 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1174612407 | 202 | M>L | No | gnomAD | |
rs779635416 | 204 | V>A | No |
ExAC gnomAD |
|
rs1803204713 | 204 | V>L | No | Ensembl | |
rs748953026 | 205 | N>D | No |
ExAC gnomAD |
|
rs1397759313 | 206 | S>F | No | gnomAD | |
rs186101654 | 208 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs761201457 | 209 | M>K | No |
ExAC TOPMed gnomAD |
|
rs761201457 | 209 | M>T | No |
ExAC TOPMed gnomAD |
|
rs773534599 | 209 | M>V | No |
ExAC gnomAD |
|
rs1803206675 | 210 | G>R | No | gnomAD | |
rs1803207405 | 211 | M>R | No |
TOPMed gnomAD |
|
rs1357568344 | 215 | N>S | No | TOPMed | |
rs2128749103 | 216 | L>F | No | Ensembl | |
rs374558704 | 216 | L>H | No | Ensembl | |
rs1433235029 | 217 | S>R | No |
TOPMed gnomAD |
|
rs1583617939 | 218 | N>T | No | Ensembl | |
rs1340886671 | 219 | P>R | No |
TOPMed gnomAD |
|
rs1245011461 | 219 | P>T | No |
TOPMed gnomAD |
|
COSM1313009 COSM1313008 |
220 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1803210127 | 220 | C>R | No | gnomAD | |
TCGA novel | 220 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1314744262 | 220 | C>Y | No |
TOPMed gnomAD |
|
rs1324100365 | 221 | A>P | No | gnomAD | |
rs1324100365 | 221 | A>S | No | gnomAD | |
rs1803211251 | 221 | A>V | No | Ensembl | |
rs771377600 | 222 | S>T | No |
ExAC gnomAD |
|
TCGA novel | 222 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1803212137 | 223 | P>L | No |
TOPMed gnomAD |
|
rs371517780 | 224 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1583618007 | 224 | Q>P | No | TOPMed | |
rs1583618007 | 224 | Q>R | No | TOPMed | |
rs759467615 | 225 | V>A | No |
ExAC gnomAD |
|
rs1583618052 | 227 | P>A | No | TOPMed | |
rs1583618052 | 227 | P>T | No | TOPMed | |
rs1233628355 | 228 | M>V | No | gnomAD | |
rs199978280 | 229 | H>N | No |
ESP ExAC TOPMed gnomAD |
|
rs199978280 | 229 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs1803214480 | 234 | M>I | No | Ensembl | |
TCGA novel | 235 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs1583784097 | 236 | L>S | No | Ensembl | |
rs1808551401 | 237 | K>R | No | Ensembl | |
rs1216269304 | 238 | A>P | No |
TOPMed gnomAD |
|
rs1216269304 | 238 | A>S | No |
TOPMed gnomAD |
|
rs1216269304 | 238 | A>T | No |
TOPMed gnomAD |
|
rs1808551980 | 238 | A>V | No | Ensembl | |
rs1215956801 | 240 | L>S | No |
TOPMed gnomAD |
|
rs1808552932 | 241 | T>I | No | TOPMed | |
rs1236361510 | 243 | H>D | No | gnomAD | |
rs753340124 | 244 | P>L | No |
ExAC gnomAD |
|
rs754599741 | 245 | A>S | No |
ExAC TOPMed gnomAD |
|
rs754599741 | 245 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1808554396 | 246 | A>V | No | TOPMed | |
rs1438869562 | 247 | M>I | No | gnomAD | |
rs1245377870 | 247 | M>T | No |
TOPMed gnomAD |
|
rs747120884 | 252 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1007738454 | 255 | M>T | No | TOPMed | |
rs1157334734 | 255 | M>V | No |
TOPMed gnomAD |
|
COSM1673081 COSM1673080 |
256 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757678260 | 256 | G>E | No |
ExAC TOPMed gnomAD |
|
rs1808556455 | 256 | G>R | No | TOPMed | |
rs757678260 | 256 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs781517023 | 257 | H>D | No |
ExAC gnomAD |
|
rs1808557716 | 258 | M>I | No | TOPMed | |
rs1301158305 | 258 | M>T | No |
TOPMed gnomAD |
|
rs746404961 | 258 | M>V | No |
ExAC gnomAD |
|
rs1383713219 | 259 | M>I | No | gnomAD | |
rs1423462800 | 259 | M>K | No | TOPMed | |
COSM3832602 rs1808558353 COSM3832603 |
260 | E>K | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs1458228253 | 261 | M>L | No |
TOPMed gnomAD |
|
rs201838146 | 262 | M>T | No |
ExAC TOPMed gnomAD |
|
COSM3637790 COSM3637791 rs377293245 |
264 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
rs561182352 | 265 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs749319347 | 265 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1808559818 | 266 | Q>K | No | Ensembl | |
rs1583784502 | 267 | D>A | No | Ensembl | |
rs2128800498 | 268 | Q>H | No | Ensembl | |
rs181954958 | 269 | T>A | No |
ExAC TOPMed gnomAD |
|
COSM4849880 COSM4849881 rs565546192 |
269 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1222328951 | 271 | H>Q | No | TOPMed | |
COSM1450232 COSM1450231 |
271 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1457040700 | 272 | H>Q | No | gnomAD | |
rs773018371 | 272 | H>R | No |
ExAC gnomAD |
|
rs1176609671 | 273 | H>Y | No | gnomAD | |
rs368741794 | 274 | M>I | No |
ESP TOPMed gnomAD |
|
rs2128800521 | 274 | M>T | No | Ensembl | |
rs1234376559 | 274 | M>V | No |
TOPMed gnomAD |
|
rs1470496971 | 275 | H>Y | No | gnomAD | |
rs1350182970 COSM212696 |
276 | S>L | breast [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs760551160 | 276 | S>P | No |
ExAC TOPMed gnomAD |
|
rs1583784728 | 277 | H>P | No | Ensembl | |
rs373447544 | 277 | H>Q | No |
ESP ExAC TOPMed |
|
rs1583784719 | 277 | H>Y | No | Ensembl | |
rs754550142 | 278 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1808563844 | 278 | P>T | No | TOPMed | |
rs1808565429 | 279 | H>P | No | TOPMed | |
TCGA novel | 280 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs758017680 | 280 | Q>P | No |
ExAC gnomAD |
|
rs111999362 | 281 | H>P | No | Ensembl | |
rs111999362 | 281 | H>R | No | Ensembl | |
rs781570161 | 281 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs1404253191 | 283 | T>I | No |
TOPMed gnomAD |
|
rs746199510 | 285 | P>L | No |
ExAC gnomAD |
|
TCGA novel | 285 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1808566951 | 285 | P>T | No | Ensembl | |
rs780674601 | 286 | P>L | No |
ExAC gnomAD |
|
rs200155433 | 286 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs200155433 | 286 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs768903441 | 287 | H>R | No |
ExAC gnomAD |
|
rs1324926904 | 289 | P>A | No |
TOPMed gnomAD |
|
rs1316976600 | 291 | P>T | No | gnomAD | |
rs748410806 | 293 | Q>* | No |
ExAC gnomAD |
|
rs377537383 | 297 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs377537383 | 297 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1159379272 | 297 | P>S | No | TOPMed | |
rs766084100 | 298 | A>G | No |
ExAC gnomAD |
|
rs760451674 | 298 | A>S | No |
ExAC TOPMed gnomAD |
|
rs1465134057 | 300 | H>Q | No | gnomAD | |
rs776688895 | 301 | P>H | No |
ExAC gnomAD |
|
rs1808572877 | 301 | P>T | No | TOPMed | |
rs759449695 | 303 | P>T | No |
ExAC TOPMed gnomAD |
|
rs764768380 | 306 | H>R | No |
ExAC gnomAD |
|
rs1583785184 | 307 | H>P | No | Ensembl | |
rs1319970262 | 307 | H>Q | No |
TOPMed gnomAD |
|
COSM4847032 COSM4847033 |
308 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1808574349 | 309 | Q>L | No | gnomAD | |
rs1220878125 | 310 | N>K | No | gnomAD | |
rs1583785210 | 310 | N>S | No | Ensembl | |
rs1583785210 | 310 | N>T | No | Ensembl | |
rs1269018624 | 311 | H>N | No |
TOPMed gnomAD |
|
rs1344238072 | 314 | H>Y | No | gnomAD | |
rs1261008857 | 317 | H>L | No | TOPMed | |
rs1808575895 | 317 | H>Y | No | TOPMed | |
rs1368175458 | 319 | H>Q | No | TOPMed | |
rs1808577016 | 321 | H>L | No | Ensembl | |
rs1224533595 | 321 | H>N | No | gnomAD | |
rs1224533595 | 321 | H>Y | No | gnomAD | |
rs762619675 | 323 | H>Y | No |
ExAC gnomAD |
|
rs763747825 | 324 | P>A | No |
ExAC TOPMed gnomAD |
|
rs1287440220 | 324 | P>Q | No | gnomAD | |
rs763747825 | 324 | P>T | No |
ExAC TOPMed gnomAD |
|
rs1562652911 | 325 | A>S | No |
TOPMed gnomAD |
|
rs1562652911 | 325 | A>T | No |
TOPMed gnomAD |
|
rs1808578747 | 326 | H>Q | No | gnomAD | |
rs1808578527 | 326 | H>Y | No |
TOPMed gnomAD |
|
rs1808578969 | 327 | H>Y | No | TOPMed | |
rs756555445 | 328 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs1808580340 | 329 | T>I | No | Ensembl | |
rs950129517 | 329 | T>P | No |
TOPMed gnomAD |
|
rs780257117 | 330 | S>L | No |
ExAC TOPMed gnomAD |
|
rs1375067820 | 331 | P>L | No |
TOPMed gnomAD |
|
rs1475857925 | 332 | H>N | No |
TOPMed gnomAD |
|
rs1475857925 | 332 | H>Y | No |
TOPMed gnomAD |
|
COSM3785080 COSM3785081 rs748680746 |
333 | P>L | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1056660858 | 335 | L>P | No |
TOPMed gnomAD |
|
rs145585405 | 338 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778124388 | 339 | N>I | No |
ExAC gnomAD |
|
rs2128800827 | 339 | N>K | No | Ensembl | |
rs1326704711 | 342 | Q>R | No | gnomAD | |
rs777693503 | 345 | P>L | No |
ExAC gnomAD |
|
rs777693503 | 345 | P>R | No |
ExAC gnomAD |
|
rs1808941488 | 347 | T>A | No | TOPMed | |
rs1808941969 | 350 | M>T | No | TOPMed | |
rs780989909 | 351 | Q>K | No |
ExAC gnomAD |
|
rs1282386320 | 352 | P>L | No | gnomAD | |
rs1462811192 | 353 | T>A | No | gnomAD | |
rs745608002 | 353 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1462811192 | 353 | T>P | No | gnomAD | |
rs977494423 | 354 | Q>L | No | TOPMed | |
rs1808944593 | 355 | T>P | No |
TOPMed gnomAD |
|
rs769732103 | 356 | I>M | No |
ExAC TOPMed gnomAD |
|
rs953041858 | 358 | P>S | No |
TOPMed gnomAD |
|
rs953041858 | 358 | P>T | No |
TOPMed gnomAD |
|
rs1808945761 | 359 | P>T | No | Ensembl | |
COSM6110110 COSM6110111 |
360 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs878881764 | 360 | Q>P | No | Ensembl | |
rs1808946688 | 361 | P>A | No | Ensembl | |
TCGA novel | 361 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 361 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs762852328 | 362 | T>P | No |
ExAC gnomAD |
|
rs1364819784 | 362 | T>R | No | gnomAD | |
rs142716067 | 363 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142716067 | 363 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142716067 | 363 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 365 | R>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs767019490 | 365 | R>C | No |
ExAC gnomAD |
|
COSM5440526 COSM5440527 |
365 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs376502932 | 366 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1808948832 | 366 | R>W | No |
TOPMed gnomAD |
|
COSM746279 COSM746280 |
367 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1583796706 COSM4399371 COSM4399370 |
367 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
rs1808950014 | 368 | R>K | No | TOPMed | |
rs1808950426 | 369 | V>L | No |
TOPMed gnomAD |
|
rs1808950856 | 370 | V>A | No | Ensembl | |
rs1639459908 | 372 | E>V | No |
TOPMed gnomAD |
|
COSM1496625 COSM1496626 |
373 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1450233 rs758801443 COSM243842 |
374 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
rs758801443 | 374 | P>Q | No |
ExAC TOPMed gnomAD |
|
rs1204579423 | 375 | D>A | No |
TOPMed gnomAD |
|
rs751547946 | 375 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1204579423 | 375 | D>G | No |
TOPMed gnomAD |
|
rs1325970941 | 375 | D>N | No |
TOPMed gnomAD |
|
rs1808953190 | 376 | E>D | No | Ensembl | |
COSM1284300 COSM1284299 rs1479869837 |
376 | E>K | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
COSM746277 COSM746278 |
377 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1179251071 | 378 | R>G | No |
TOPMed gnomAD |
|
rs1057133379 | 379 | R>Q | No |
TOPMed gnomAD |
|
COSM3027654 COSM3027655 rs1203257412 |
379 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
COSM3431527 COSM3431526 |
382 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM5006314 COSM5006315 |
384 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM5135200 COSM5135201 |
384 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1583796910 | 385 | N>T | No | Ensembl | |
rs868276091 | 389 | A>D | No | Ensembl | |
rs1808955706 | 390 | T>I | No | TOPMed | |
TCGA novel | 391 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3027662 COSM3027663 |
391 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201779285 | 391 | R>S | No | Ensembl | |
rs1430753556 | 393 | R>I | No | gnomAD | |
rs1233673821 | 397 | K>E | No | Ensembl | |
rs781328727 | 398 | V>F | No |
ExAC TOPMed gnomAD |
|
rs1583797005 | 398 | V>G | No | Ensembl | |
rs746089392 | 399 | W>R | No |
ExAC gnomAD |
|
rs1583797038 | 400 | V>G | No | Ensembl | |
rs755947543 | 401 | M>T | No |
ExAC TOPMed gnomAD |
|
rs76479725 | 402 | S>* | No | Ensembl | |
rs1478179059 | 402 | S>P | No | TOPMed | |
rs1208957664 | 403 | L>S | No |
TOPMed gnomAD |
|
COSM1496624 COSM1496623 |
404 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1808960109 | 406 | K>R | No | TOPMed | |
rs1808960580 | 407 | A>E | No | TOPMed | |
rs1583797142 | 411 | T>P | No | Ensembl | |
rs1347490207 | 413 | T>A | No | gnomAD | |
rs1224136509 | 415 | M>K | No | gnomAD | |
rs1562656320 | 415 | M>L | No | Ensembl | |
rs1808962725 | 416 | Q>H | No | Ensembl | |
rs1295130043 | 418 | Q>H | No | gnomAD | |
rs748102647 | 419 | N>S | No |
ExAC gnomAD |
|
rs1401424210 | 421 | V>M | No |
TOPMed gnomAD |
|
rs772818515 | 422 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1432924889 | 423 | M>I | No | gnomAD | |
rs1809543703 | 423 | M>T | No |
TOPMed gnomAD |
|
rs1343531182 | 423 | M>V | No | gnomAD | |
rs1289667703 | 424 | L>W | No | gnomAD | |
rs887047281 | 426 | N>H | No | TOPMed | |
rs1809544484 | 426 | N>S | No | Ensembl | |
rs746691713 | 427 | E>Q | No |
ExAC gnomAD |
|
rs1450985772 | 427 | E>V | No | gnomAD | |
rs971640677 | 430 | Q>K | No |
TOPMed gnomAD |
|
rs1223740271 | 432 | K>Q | No | gnomAD | |
rs115644935 | 432 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM1088930 COSM1088931 |
433 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763163341 | 433 | Q>H | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 433 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1809546457 | 433 | Q>R | No | TOPMed | |
rs879239409 | 438 | H>N | No | Ensembl | |
rs774783224 | 440 | D>Y | No | ExAC | |
COSM3880455 COSM3880454 |
441 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs78786238 | 442 | P>L | No | gnomAD | |
rs78786238 | 442 | P>Q | No | gnomAD | |
rs78786238 | 442 | P>R | No | gnomAD | |
COSM6177714 COSM6177715 |
442 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs767611206 | 443 | I>V | No |
ExAC gnomAD |
|
rs1809548842 | 444 | T>I | No | Ensembl | |
rs1185238651 | 445 | A>V | No | gnomAD | |
rs1206621328 | 446 | M>I | No |
TOPMed gnomAD |
|
rs142258951 | 446 | M>R | No |
ESP ExAC TOPMed gnomAD |
|
rs760898788 | 447 | Q>R | No |
ExAC TOPMed gnomAD |
|
COSM1088933 COSM1088932 |
449 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs766519556 | 450 | S>P | No |
ExAC TOPMed gnomAD |
|
rs1409985113 | 451 | Q>K | No | gnomAD | |
rs754086081 | 451 | Q>R | No |
ExAC gnomAD |
|
rs1809550956 | 452 | G>A | No | TOPMed | |
rs1809550956 | 452 | G>V | No | TOPMed | |
rs751540728 | 455 | S>N | No | ExAC | |
COSM3880458 COSM3880459 |
457 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs368377844 | 457 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1364187136 | 458 | S>G | No | gnomAD | |
rs1432120368 | 458 | S>N | No | TOPMed | |
rs1809615979 | 460 | P>A | No | Ensembl | |
rs780735841 | 460 | P>L | No |
ExAC gnomAD |
|
rs1386307746 | 467 | A>V | No | gnomAD | |
rs1809616732 | 468 | C>S | No | TOPMed | |
rs1809616926 COSM3778360 COSM3778361 |
470 | Q>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
TCGA novel | 470 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs61736228 | 471 | Q>* | No |
1000Genomes TOPMed gnomAD |
|
rs61736228 | 471 | Q>K | No |
1000Genomes TOPMed gnomAD |
|
rs904959298 | 472 | Q>P | No |
TOPMed gnomAD |
|
rs1323636929 | 473 | V>D | No | gnomAD | |
rs1809618275 | 474 | I>F | No | Ensembl | |
rs1242742112 | 475 | Q>* | No |
TOPMed gnomAD |
|
rs769435700 | 475 | Q>R | No |
ExAC gnomAD |
|
COSM3778363 COSM3778362 |
476 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1809618875 | 476 | H>R | No | TOPMed | |
rs1224820084 | 477 | N>S | No | gnomAD | |
rs372077434 | 479 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1809620010 | 481 | T>A | No | Ensembl | |
rs748456667 | 482 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs376651265 | 484 | S>L | No |
ExAC TOPMed gnomAD |
|
rs1809621163 | 485 | V>F | No | TOPMed | |
rs1809621345 | 485 | V>G | No | Ensembl | |
rs747483817 | 486 | S>I | No |
ExAC TOPMed gnomAD |
|
rs747483817 | 486 | S>N | No |
ExAC TOPMed gnomAD |
|
rs770965206 | 486 | S>R | No |
ExAC gnomAD |
|
COSM1313012 COSM1313013 |
487 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200048042 | 487 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 488 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759707007 | 488 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1243991499 | 489 | V>I | No |
TOPMed gnomAD |
|
rs1243991499 | 489 | V>L | No |
TOPMed gnomAD |
|
rs1383996530 | 492 | S>F | No | gnomAD | |
rs1163323912 | 492 | S>P | No | gnomAD | |
rs2128810003 | 494 | L>F | No | Ensembl | |
COSM1088936 COSM1088937 |
495 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1809623709 | 496 | Q>* | No | TOPMed | |
rs996473654 | 497 | L>V | No |
TOPMed gnomAD |
|
rs2128810009 | 498 | T>N | No | Ensembl | |
rs762897250 | 499 | T>P | No |
ExAC TOPMed gnomAD |
|
rs762897250 | 499 | T>S | No |
ExAC TOPMed gnomAD |
|
rs767876336 | 500 | H>Q | No |
ExAC gnomAD |
|
rs1383662047 | 500 | H>R | No |
TOPMed gnomAD |
|
rs1432533784 | 501 | R>G | No | TOPMed | |
COSM6110108 COSM6110109 |
503 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757234943 | 504 | L>V | No |
ExAC gnomAD |
|
rs540138550 | 505 | N>K | No | Ensembl | |
rs1335623931 | 505 | N>S | No |
TOPMed gnomAD |
|
COSM1088939 rs370060119 COSM1088938 |
506 | P>L | endometrium [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs370060119 | 506 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs370060119 | 506 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
rs113953895 | 507 | I>N | No | Ensembl | |
rs113953895 | 507 | I>T | No | Ensembl |
No associated diseases with Q02930
3 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
Name | Definition |
---|---|
cAMP response element binding | Binding to a cyclic AMP response element (CRE), a short palindrome-containing sequence found in the promoters of genes whose expression is regulated in response to cyclic AMP. |
DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
identical protein binding | Binding to an identical protein or proteins. |
metal ion binding | Binding to a metal ion. |
sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
2 GO annotations of biological process
Name | Definition |
---|---|
positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
8 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O93602 | ATF2 | Cyclic AMP-dependent transcription factor ATF-2 | Gallus gallus (Chicken) | SS |
P15408 | FOSL2 | Fos-related antigen 2 | Homo sapiens (Human) | PR |
P17544 | ATF7 | Cyclic AMP-dependent transcription factor ATF-7 | Homo sapiens (Human) | PR |
P15336 | ATF2 | Cyclic AMP-dependent transcription factor ATF-2 | Homo sapiens (Human) | EV |
P47930 | Fosl2 | Fos-related antigen 2 | Mus musculus (Mouse) | PR |
Q8R0S1 | Atf7 | Cyclic AMP-dependent transcription factor ATF-7 | Mus musculus (Mouse) | PR |
P16951 | Atf2 | Cyclic AMP-dependent transcription factor ATF-2 | Mus musculus (Mouse) | SS |
Q00969 | Atf2 | Cyclic AMP-dependent transcription factor ATF-2 | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MIYEESKMNL | EQERPFVCSA | PGCSQRFPTE | DHLMIHRHKH | EMTLKFPSIK | TDNMLSDQTP |
70 | 80 | 90 | 100 | 110 | 120 |
TPTRFLKNCE | EVGLFSELDC | SLEHEFRKAQ | EEESSKRNIS | MHNAVGGAMT | GPGTHQLSSA |
130 | 140 | 150 | 160 | 170 | 180 |
RLPNHDTNVV | IQQAMPSPQS | SSVITQAPST | NRQIGPVPGS | LSSLLHLHNR | QRQPMPASMP |
190 | 200 | 210 | 220 | 230 | 240 |
GTLPNPTMPG | SSAVLMPMER | QMSVNSSIMG | MQGPNLSNPC | ASPQVQPMHS | EAKMRLKAAL |
250 | 260 | 270 | 280 | 290 | 300 |
THHPAAMSNG | NMNTMGHMME | MMGSRQDQTP | HHHMHSHPHQ | HQTLPPHHPY | PHQHQHPAHH |
310 | 320 | 330 | 340 | 350 | 360 |
PHPQPHHQQN | HPHHHSHSHL | HAHPAHHQTS | PHPPLHTGNQ | AQVSPATQQM | QPTQTIQPPQ |
370 | 380 | 390 | 400 | 410 | 420 |
PTGGRRRRVV | DEDPDERRRK | FLERNRAAAT | RCRQKRKVWV | MSLEKKAEEL | TQTNMQLQNE |
430 | 440 | 450 | 460 | 470 | 480 |
VSMLKNEVAQ | LKQLLLTHKD | CPITAMQKES | QGYLSPESSP | PASPVPACSQ | QQVIQHNTIT |
490 | 500 | ||||
TSSSVSEVVG | SSTLSQLTTH | RTDLNPIL |