O15370
Gene name |
SOX12 (SOX22) |
Protein name |
Transcription factor SOX-12 |
Names |
Protein SOX-22 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6666 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
29-120 (HMG box domain) |
Relief mechanism |
|
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure

Activated structure

1 structures for O15370
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-O15370-F1 | Predicted | AlphaFoldDB |
346 variants for O15370
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs2122429332 | 2 | V>G | No | Ensembl | |
rs1568504498 | 7 | A>G | No | TOPMed | |
rs1568504498 | 7 | A>V | No | TOPMed | |
rs1317086166 | 10 | K>N | No |
TOPMed gnomAD |
|
rs2013079754 | 10 | K>R | No | TOPMed | |
rs1335656897 | 13 | G>D | No |
TOPMed gnomAD |
|
rs1215815120 | 14 | G>A | No |
TOPMed gnomAD |
|
rs1046439261 | 15 | P>S | No |
TOPMed gnomAD |
|
rs772171052 | 16 | P>L | No |
ExAC TOPMed gnomAD |
|
rs2122429513 | 17 | P>L | No | Ensembl | |
rs1183055643 | 17 | P>S | No | gnomAD | |
rs1322496549 | 18 | P>L | No | gnomAD | |
rs1322496549 | 18 | P>R | No | gnomAD | |
rs1235093477 | 18 | P>S | No | gnomAD | |
rs1471897239 | 19 | G>R | No |
TOPMed gnomAD |
|
rs1417978895 | 20 | P>H | No |
TOPMed gnomAD |
|
rs1417978895 | 20 | P>L | No |
TOPMed gnomAD |
|
rs2122429594 | 21 | G>R | No | Ensembl | |
rs2013080675 | 22 | P>L | No | gnomAD | |
rs1427986253 | 23 | A>T | No |
TOPMed gnomAD |
|
rs747028249 | 23 | A>V | No |
ExAC TOPMed gnomAD |
|
rs527827665 | 24 | E>K | No |
1000Genomes gnomAD |
|
rs2013080917 | 25 | E>* | No | Ensembl | |
rs940668358 | 26 | G>R | No | TOPMed | |
rs1410310750 | 29 | E>D | No | gnomAD | |
rs1473422417 | 30 | P>T | No | Ensembl | |
rs775530498 | 31 | G>C | No |
ExAC TOPMed gnomAD |
|
rs775530498 | 31 | G>R | No |
ExAC TOPMed gnomAD |
|
rs775530498 | 31 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1409153342 | 33 | C>W | No | gnomAD | |
rs762847089 | 34 | K>R | No |
ExAC gnomAD |
|
TCGA novel | 35 | T>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs375905724 | 36 | P>L | No |
ExAC gnomAD |
|
rs375905724 | 36 | P>R | No |
ExAC gnomAD |
|
rs1600206723 | 40 | I>V | No | Ensembl | |
rs2013081671 | 43 | P>S | No | Ensembl | |
rs2122429852 | 44 | M>I | No | Ensembl | |
rs866924860 | 46 | A>S | No | Ensembl | |
rs761598365 | 49 | V>G | No |
ExAC gnomAD |
|
rs2122429883 | 50 | W>* | No | Ensembl | |
rs767050311 | 51 | S>* | No | ExAC | |
rs1268459677 | 51 | S>P | No | gnomAD | |
rs1205112667 | 52 | Q>R | No | gnomAD | |
rs1358188637 | 53 | H>Y | No | TOPMed | |
rs1169375494 | 59 | M>I | No | gnomAD | |
rs1475540637 | 59 | M>T | No | gnomAD | |
rs2013082426 | 62 | W>G | No | TOPMed | |
COSM3673098 | 63 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2122429993 | 64 | D>E | No | Ensembl | |
rs1428985618 | 68 | A>S | No | gnomAD | |
rs1157480305 | 69 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs2013082832 | 71 | S>F | No | Ensembl | |
rs2122430039 | 71 | S>P | No | Ensembl | |
rs2013082885 | 72 | K>R | No | Ensembl | |
rs1028803326 | 73 | R>C | No |
TOPMed gnomAD |
|
rs1332273974 | 75 | G>A | No | gnomAD | |
rs2013083061 COSM4923376 |
75 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs2013083153 | 76 | R>C | No | Ensembl | |
rs779303375 | 76 | R>H | No |
ExAC gnomAD |
|
rs1272249801 | 77 | R>H | No | gnomAD | |
rs753056440 | 77 | R>S | No |
ExAC gnomAD |
|
rs2013083418 | 80 | L>R | No | Ensembl | |
rs1048176849 | 80 | L>V | No | Ensembl | |
rs758686415 | 83 | D>G | No |
ExAC gnomAD |
|
rs2013083574 | 84 | S>A | No | TOPMed | |
rs747132284 | 84 | S>L | No |
ExAC TOPMed gnomAD |
|
rs747132284 | 84 | S>W | No |
ExAC TOPMed gnomAD |
|
rs2013083730 | 85 | E>D | No | Ensembl | |
rs2122430206 COSM3799422 |
86 | K>M | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs55875126 | 86 | K>N | No | Ensembl | |
rs2013083830 COSM4134426 |
87 | I>M | thyroid [Cosmic] | No |
cosmic curated TOPMed |
rs1198161731 | 88 | P>A | No | gnomAD | |
rs2013083934 | 89 | F>L | No |
TOPMed gnomAD |
|
rs2013083999 | 90 | V>L | No | TOPMed | |
rs2013084044 | 91 | R>L | No | Ensembl | |
rs770850889 | 92 | E>Q | No |
ExAC gnomAD |
|
rs780154689 | 94 | E>D | No |
ExAC TOPMed gnomAD |
|
rs2122430296 | 97 | R>P | No | Ensembl | |
rs761494795 | 101 | M>I | No |
ExAC gnomAD |
|
rs2013084438 | 101 | M>T | No | Ensembl | |
rs1464492090 | 102 | A>E | No |
TOPMed gnomAD |
|
rs1464492090 | 102 | A>V | No |
TOPMed gnomAD |
|
rs2122430351 | 103 | D>Y | No | Ensembl | |
rs2122430365 | 105 | P>S | No | Ensembl | |
rs2013084704 | 106 | D>N | No | TOPMed | |
rs1344511263 | 107 | Y>C | No | gnomAD | |
rs2122430390 | 108 | K>M | No | Ensembl | |
rs760233296 | 108 | K>N | No |
ExAC gnomAD |
|
rs2122430408 | 110 | R>G | No | Ensembl | |
rs765814571 | 110 | R>Q | No |
ExAC gnomAD |
|
rs35462946 | 112 | R>C | No | Ensembl | |
COSM1410894 rs867428648 |
112 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs2122430471 | 113 | K>E | No | Ensembl | |
rs2122430495 | 113 | K>N | No | Ensembl | |
rs2013085141 | 113 | K>R | No | Ensembl | |
rs2122430509 | 114 | K>Q | No | Ensembl | |
rs2122430527 | 115 | S>G | No | Ensembl | |
rs2122430534 | 115 | S>R | No | Ensembl | |
rs866311137 | 116 | K>M | No | Ensembl | |
rs866311137 | 116 | K>R | No | Ensembl | |
rs556205020 | 117 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs556205020 | 117 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1008567981 | 117 | G>R | No | TOPMed | |
rs556205020 | 117 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs978436990 | 118 | A>E | No |
TOPMed gnomAD |
|
rs753152460 | 118 | A>S | No |
ExAC TOPMed gnomAD |
|
rs978436990 | 118 | A>V | No |
TOPMed gnomAD |
|
rs1254868779 | 120 | A>D | No | gnomAD | |
rs1254868779 | 120 | A>V | No | gnomAD | |
rs2013085759 | 121 | K>R | No | gnomAD | |
rs2013085908 | 124 | P>R | No | Ensembl | |
rs2013085865 | 124 | P>S | No | TOPMed | |
rs2013086249 | 126 | P>H | No | gnomAD | |
rs1459142259 | 126 | P>T | No |
TOPMed gnomAD |
|
rs1413082555 | 127 | P>S | No | TOPMed | |
rs758639743 | 128 | G>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs939858413 | 128 | G>D | No |
TOPMed gnomAD |
|
rs758639743 | 128 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1345087091 | 128 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs764383462 | 129 | G>C | No |
ExAC TOPMed gnomAD |
|
rs764383462 | 129 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1046190720 | 129 | G>V | No | Ensembl | |
rs751675521 | 130 | S>G | No |
ExAC gnomAD |
|
rs1361604306 | 130 | S>I | No | gnomAD | |
rs991407227 | 131 | G>D | No |
TOPMed gnomAD |
|
rs1198043967 | 134 | S>C | No | gnomAD | |
rs2013087641 | 135 | R>G | No | TOPMed | |
rs1002103858 | 135 | R>P | No | Ensembl | |
rs2122430926 | 136 | L>P | No | Ensembl | |
rs2013087766 | 137 | K>N | No | gnomAD | |
rs916714328 | 138 | P>A | No |
TOPMed gnomAD |
|
rs916714328 | 138 | P>S | No |
TOPMed gnomAD |
|
rs982230130 | 139 | G>R | No |
TOPMed gnomAD |
|
rs1248945894 | 140 | P>L | No |
TOPMed gnomAD |
|
rs1248945894 | 140 | P>Q | No |
TOPMed gnomAD |
|
rs535111667 | 140 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1310646290 | 141 | Q>* | No | TOPMed | |
rs1011981897 | 141 | Q>L | No | 1000Genomes | |
rs1011981897 | 141 | Q>R | No | 1000Genomes | |
rs1386644328 | 143 | P>H | No |
TOPMed gnomAD |
|
rs1386644328 | 143 | P>L | No |
TOPMed gnomAD |
|
rs1318633194 | 144 | G>A | No |
TOPMed gnomAD |
|
rs745915966 | 145 | R>C | No |
ExAC TOPMed gnomAD |
|
rs1326943752 | 145 | R>L | No |
TOPMed gnomAD |
|
rs745915966 | 145 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1600206857 | 146 | G>V | No | Ensembl | |
rs1336429146 | 147 | G>D | No |
TOPMed gnomAD |
|
rs2013089118 | 147 | G>S | No | TOPMed | |
rs2013089326 | 149 | R>P | No | Ensembl | |
rs2122431112 | 150 | A>P | No | 1000Genomes | |
rs1600206868 | 151 | A>T | No | Ensembl | |
rs1385494921 | 152 | G>A | No |
TOPMed gnomAD |
|
rs1385494921 | 152 | G>E | No |
TOPMed gnomAD |
|
rs1177872142 | 152 | G>R | No |
TOPMed gnomAD |
|
rs2013089785 | 154 | P>S | No | Ensembl | |
rs1451204049 | 155 | L>F | No |
TOPMed gnomAD |
|
rs755018354 | 156 | G>R | No |
ExAC TOPMed gnomAD |
|
rs2013090234 | 156 | G>V | No | gnomAD | |
rs755018354 | 156 | G>W | No |
ExAC TOPMed gnomAD |
|
rs1796309196 | 157 | G>D | No | TOPMed | |
rs2013090310 | 157 | G>S | No | TOPMed | |
rs1482193457 | 158 | G>R | No |
TOPMed gnomAD |
|
rs967433229 | 159 | A>T | No | Ensembl | |
rs778948503 | 160 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1341725060 | 160 | A>V | No |
TOPMed gnomAD |
|
rs1213961891 | 161 | A>T | No |
TOPMed gnomAD |
|
rs1487369311 | 162 | P>L | No |
TOPMed gnomAD |
|
rs2013091052 | 162 | P>S | No | Ensembl | |
rs748008617 | 164 | D>Y | No |
ExAC gnomAD |
|
rs770657048 | 165 | D>G | No | Ensembl | |
rs1161177069 | 165 | D>Y | No | gnomAD | |
rs2013091756 | 166 | D>A | No | gnomAD | |
rs890248293 | 166 | D>E | No |
TOPMed gnomAD |
|
rs1364548001 | 166 | D>N | No | gnomAD | |
rs1462227838 | 168 | D>H | No |
TOPMed gnomAD |
|
rs1008682476 | 169 | D>E | No | TOPMed | |
rs1466196308 | 169 | D>V | No | TOPMed | |
rs554982419 | 170 | D>E | No |
1000Genomes TOPMed gnomAD |
|
TCGA novel | 171 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1166153415 | 171 | E>K | No | TOPMed | |
rs2013092448 | 172 | E>A | No | TOPMed | |
rs1431151377 | 172 | E>Q | No |
TOPMed gnomAD |
|
rs1600206904 | 175 | E>D | No | Ensembl | |
rs1041476189 | 175 | E>G | No |
TOPMed gnomAD |
|
rs1165889458 | 176 | V>A | No | gnomAD | |
rs1257926884 | 176 | V>M | No |
TOPMed gnomAD |
|
rs1456704983 | 177 | R>C | No |
TOPMed gnomAD |
|
rs1456704983 | 177 | R>G | No |
TOPMed gnomAD |
|
rs1019825613 | 177 | R>H | No |
TOPMed gnomAD |
|
rs1019825613 | 177 | R>P | No |
TOPMed gnomAD |
|
rs372611150 | 178 | L>Q | No | Ensembl | |
rs1207342389 | 179 | V>A | No |
TOPMed gnomAD |
|
rs1000287490 | 180 | E>K | No |
TOPMed gnomAD |
|
rs1000287490 | 180 | E>Q | No |
TOPMed gnomAD |
|
rs2122431637 | 181 | T>I | No | Ensembl | |
rs1265356388 | 182 | P>L | No | Ensembl | |
rs1393977546 | 184 | R>P | No |
TOPMed gnomAD |
|
rs746695082 | 185 | E>A | No |
ExAC TOPMed gnomAD |
|
rs1390618405 | 186 | L>P | No | gnomAD | |
rs1314417108 | 190 | V>A | No |
TOPMed gnomAD |
|
rs866806497 | 190 | V>I | No | Ensembl | |
rs975730143 | 192 | A>V | No |
TOPMed gnomAD |
|
rs2013094672 | 193 | G>* | No | Ensembl | |
rs1251689087 | 193 | G>V | No | gnomAD | |
rs2013094770 | 194 | R>W | No | TOPMed | |
rs1483968030 | 195 | A>V | No |
TOPMed gnomAD |
|
rs1370570444 | 196 | A>S | No | TOPMed | |
rs2013094901 | 196 | A>V | No | TOPMed | |
rs1251044891 | 197 | R>G | No |
TOPMed gnomAD |
|
rs931003404 | 197 | R>P | No | gnomAD | |
rs931003404 | 197 | R>Q | No | gnomAD | |
rs1251044891 | 197 | R>W | No |
TOPMed gnomAD |
|
rs1422294179 | 200 | A>E | No |
TOPMed gnomAD |
|
rs1422294179 | 200 | A>G | No |
TOPMed gnomAD |
|
rs1416141473 | 200 | A>T | No | gnomAD | |
rs1422294179 | 200 | A>V | No |
TOPMed gnomAD |
|
TCGA novel | 201 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1374021367 | 202 | R>C | No | gnomAD | |
rs1374021367 | 202 | R>G | No | gnomAD | |
rs1432059218 | 202 | R>H | No | gnomAD | |
rs557418764 | 203 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs958538885 | 204 | Q>L | No |
TOPMed gnomAD |
|
rs958538885 | 204 | Q>R | No |
TOPMed gnomAD |
|
rs1483508318 | 205 | G>E | No | TOPMed | |
rs1304086424 | 206 | P>R | No | gnomAD | |
rs1395115403 | 207 | S>P | No |
TOPMed gnomAD |
|
rs2013095957 | 208 | G>R | No | gnomAD | |
rs1797079049 | 209 | E>K | No | Ensembl | |
rs1797079049 | 209 | E>Q | No | Ensembl | |
rs1273814862 | 210 | G>V | No | gnomAD | |
rs2013096242 | 211 | A>S | No |
TOPMed gnomAD |
|
rs2013096242 | 211 | A>T | No |
TOPMed gnomAD |
|
rs1210831415 | 211 | A>V | No | gnomAD | |
rs562098614 | 212 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2013096707 | 213 | A>T | No |
TOPMed gnomAD |
|
rs2013096753 | 213 | A>V | No | gnomAD | |
rs906397602 | 214 | A>S | No |
TOPMed gnomAD |
|
rs906397602 | 214 | A>T | No |
TOPMed gnomAD |
|
rs2013097001 | 215 | A>S | No | TOPMed | |
rs1055083034 | 216 | A>T | No | Ensembl | |
rs1181198696 | 216 | A>V | No | gnomAD | |
rs1456494948 | 218 | S>F | No |
TOPMed gnomAD |
|
rs1384138545 | 219 | P>R | No | gnomAD | |
rs181303084 | 220 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs181303084 | 220 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs866230814 | 221 | P>L | No | TOPMed | |
rs866230814 | 221 | P>Q | No | TOPMed | |
rs866230814 | 221 | P>R | No | TOPMed | |
rs1390027264 | 221 | P>S | No | gnomAD | |
rs2013097662 | 224 | D>E | No | gnomAD | |
rs2013097612 | 224 | D>G | No | TOPMed | |
rs2122432293 | 224 | D>N | No | Ensembl | |
rs1177544531 | 225 | E>Q | No |
TOPMed gnomAD |
|
rs757594648 | 226 | E>Q | No | ExAC | |
rs2013097907 | 227 | P>L | No | TOPMed | |
rs2013097907 | 227 | P>R | No | TOPMed | |
rs1446707122 | 228 | E>G | No |
TOPMed gnomAD |
|
rs1337191150 | 228 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1289066635 | 230 | E>A | No | gnomAD | |
rs1600207027 | 230 | E>K | No | Ensembl | |
rs1296612131 | 232 | E>K | No |
TOPMed gnomAD |
|
rs750556965 | 233 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2013098833 | 233 | E>K | No | gnomAD | |
rs2013099071 | 234 | A>S | No |
TOPMed gnomAD |
|
rs1229415912 | 234 | A>V | No | gnomAD | |
rs1276461508 | 235 | A>T | No | gnomAD | |
rs1019709029 | 236 | A>V | No |
TOPMed gnomAD |
|
rs527670259 | 237 | A>S | No |
1000Genomes ExAC gnomAD |
|
rs527670259 | 237 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs1350911968 | 237 | A>V | No |
TOPMed gnomAD |
|
rs778917309 | 238 | E>A | No |
ExAC TOPMed gnomAD |
|
rs778917309 | 238 | E>G | No |
ExAC TOPMed gnomAD |
|
rs747974957 | 239 | E>G | No |
ExAC gnomAD |
|
rs758339680 | 240 | G>A | No |
ExAC TOPMed gnomAD |
|
rs1423746067 | 243 | E>D | No | gnomAD | |
rs73574574 RCV000905791 |
243 | E>G | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1386391522 | 243 | E>K | No |
TOPMed gnomAD |
|
rs1386391522 | 243 | E>Q | No |
TOPMed gnomAD |
|
rs983816506 | 244 | T>M | No | gnomAD | |
rs983816506 | 244 | T>R | No | gnomAD | |
rs1401767358 | 244 | T>S | No | Ensembl | |
rs776214890 | 246 | A>P | No |
ExAC TOPMed gnomAD |
|
rs776214890 | 246 | A>S | No |
ExAC TOPMed gnomAD |
|
rs776214890 | 246 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1188037724 | 247 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs961007431 | 248 | G>R | No |
TOPMed gnomAD |
|
rs1394903386 | 249 | E>Q | No | gnomAD | |
rs369677394 | 251 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
rs369677394 | 251 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
rs1366903638 | 252 | L>P | No | gnomAD | |
rs2013101753 | 253 | G>V | No | Ensembl | |
rs2013101992 | 255 | L>V | No | TOPMed | |
rs1346687941 | 256 | S>F | No | Ensembl | |
rs1243213478 | 257 | R>W | No |
TOPMed gnomAD |
|
rs1485880682 | 258 | L>M | No | gnomAD | |
rs2013102518 | 259 | P>L | No | TOPMed | |
rs764632747 | 259 | P>T | No |
ExAC TOPMed gnomAD |
|
rs1207094435 | 260 | P>S | No |
TOPMed gnomAD |
|
rs774631945 | 261 | G>D | No |
ExAC TOPMed gnomAD |
|
rs1015072676 | 261 | G>R | No |
TOPMed gnomAD |
|
rs2013102864 | 262 | P>S | No | TOPMed | |
TCGA novel | 263 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs532985023 | 264 | G>V | No | 1000Genomes | |
rs2013103198 | 265 | L>P | No | Ensembl | |
rs144343937 | 265 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767885882 | 266 | D>E | No | ExAC | |
rs1376314168 | 266 | D>G | No | TOPMed | |
rs1416339129 | 266 | D>H | No | Ensembl | |
rs1182204068 | 267 | C>R | No | gnomAD | |
rs1427947620 | 270 | L>V | No | TOPMed | |
rs766425276 | 271 | D>E | No |
ExAC gnomAD |
|
rs1391073787 | 272 | R>C | No | gnomAD | |
rs1349172414 | 273 | D>E | No | gnomAD | |
rs758304545 | 273 | D>H | No |
ExAC TOPMed gnomAD |
|
rs758304545 | 273 | D>N | No |
ExAC TOPMed gnomAD |
|
rs569739469 | 274 | P>A | No | 1000Genomes | |
rs569739469 | 274 | P>T | No | 1000Genomes | |
rs1187675741 | 275 | D>A | No |
TOPMed gnomAD |
|
rs1442865208 | 277 | Q>R | No | gnomAD | |
rs777743090 | 278 | P>A | No |
ExAC TOPMed gnomAD |
|
rs1352381281 | 278 | P>L | No |
TOPMed gnomAD |
|
rs1352381281 | 278 | P>R | No |
TOPMed gnomAD |
|
rs777743090 | 278 | P>S | No |
ExAC TOPMed gnomAD |
|
rs751377586 | 279 | P>L | No |
ExAC TOPMed gnomAD |
|
rs1357408940 | 281 | G>D | No | gnomAD | |
rs1230324812 | 282 | T>M | No | gnomAD | |
rs2013104714 | 283 | S>* | No | TOPMed | |
rs2013104714 | 283 | S>L | No | TOPMed | |
rs2013104659 | 283 | S>T | No | TOPMed | |
rs2013104956 | 286 | E>D | No | Ensembl | |
rs1451494563 | 288 | P>T | No | gnomAD | |
COSM6159436 | 294 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 294 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1180909485 | 297 | E>A | No |
TOPMed gnomAD |
|
rs2013105465 | 299 | I>T | No | Ensembl | |
rs2122433258 | 300 | A>G | No | Ensembl | |
rs774885244 | 301 | G>R | No |
ExAC gnomAD |
|
rs1430211953 | 302 | D>E | No | gnomAD | |
rs1368695880 | 305 | P>L | No |
TOPMed gnomAD |
|
rs1368695880 | 305 | P>R | No |
TOPMed gnomAD |
|
rs2076676163 | 306 | S>P | No | Ensembl | |
rs1307509025 | 307 | S>T | No | gnomAD | |
rs2013106069 | 308 | I>V | No | Ensembl | |
rs2122433342 | 309 | A>T | No | Ensembl | |
rs2122433352 | 310 | D>E | No | Ensembl | |
rs201221995 | 315 | Y>N | No |
1000Genomes ExAC gnomAD |
No associated diseases with O15370
2 regional properties for O15370
Type | Name | Position | InterPro Accession |
---|---|---|---|
repeat | Leucine-rich repeat | 89 - 110 | IPR001611-1 |
repeat | Leucine-rich repeat | 114 - 135 | IPR001611-2 |
3 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
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 |
---|---|
DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
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. |
RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
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. |
transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
7 GO annotations of biological process
Name | Definition |
---|---|
anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
positive regulation of regulatory T cell differentiation | Any process that activates or increases the frequency, rate or extent of differentiation of regulatory T cells. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
spinal cord development | The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. |
14 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P48435 | SOX11 | Transcription factor SOX-11 | Gallus gallus (Chicken) | SS |
P48436 | SOX9 | Transcription factor SOX-9 | Homo sapiens (Human) | PR |
O94993 | SOX30 | Transcription factor SOX-30 | Homo sapiens (Human) | PR |
P35716 | SOX11 | Transcription factor SOX-11 | Homo sapiens (Human) | EV |
Q04888 | Sox10 | Transcription factor SOX-10 | Mus musculus (Mouse) | PR |
Q05738 | Sry | Sex-determining region Y protein | Mus musculus (Mouse) | SS |
Q04886 | Sox8 | Transcription factor SOX-8 | Mus musculus (Mouse) | SS |
Q04887 | Sox9 | Transcription factor SOX-9 | Mus musculus (Mouse) | PR |
Q7M6Y2 | Sox11 | Transcription factor SOX-11 | Mus musculus (Mouse) | SS |
Q04890 | Sox12 | Transcription factor SOX-12 | Mus musculus (Mouse) | SS |
P0C1G9 | Sox11 | Transcription factor SOX-11 | Rattus norvegicus (Rat) | SS |
Q8T3B9 | sem-2 | Transcription factor sem-2 | Caenorhabditis elegans | SS |
Q6GLH8 | sox17b.2 | Transcription factor Sox-17-beta.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
Q8AWH2 | sox17b.1 | Transcription factor Sox-17-beta.1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MVQQRGARAK | RDGGPPPPGP | GPAEEGAREP | GWCKTPSGHI | KRPMNAFMVW | SQHERRKIMD |
70 | 80 | 90 | 100 | 110 | 120 |
QWPDMHNAEI | SKRLGRRWQL | LQDSEKIPFV | REAERLRLKH | MADYPDYKYR | PRKKSKGAPA |
130 | 140 | 150 | 160 | 170 | 180 |
KARPRPPGGS | GGGSRLKPGP | QLPGRGGRRA | AGGPLGGGAA | APEDDDEDDD | EELLEVRLVE |
190 | 200 | 210 | 220 | 230 | 240 |
TPGRELWRMV | PAGRAARGQA | ERAQGPSGEG | AAAAAAASPT | PSEDEEPEEE | EEEAAAAEEG |
250 | 260 | 270 | 280 | 290 | 300 |
EEETVASGEE | SLGFLSRLPP | GPAGLDCSAL | DRDPDLQPPS | GTSHFEFPDY | CTPEVTEMIA |
310 | |||||
GDWRPSSIAD | LVFTY |