Q13950
PR
Gene name |
RUNX2 (AML3, CBFA1, OSF2, PEBP2A) |
Protein name |
Runt-related transcription factor 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:860 |
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
5 structures for Q13950
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6VG8 | X-ray | 431 A | D | 111-233 | PDB |
| 6VGD | X-ray | 420 A | D | 111-287 | PDB |
| 6VGE | X-ray | 425 A | D | 111-287 | PDB |
| 6VGG | X-ray | 431 A | D | 111-287 | PDB |
| AF-Q13950-F1 | Predicted | AlphaFoldDB |
503 variants for Q13950
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001268938 rs1786864520 |
11 | T>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193939 RCV000055837 rs397515538 |
31 | S>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001163472 CA3836263 RCV002557396 RCV002559567 rs753332305 |
42 | V>L | Cleidocranial dysostosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_064081 | 53 | Q>L | CLCD1 [UniProt] | Yes | UniProt |
|
rs779943223 RCV001163473 CA3836290 RCV001882522 |
59 | Q>R | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000661970 RCV001811434 rs781355841 |
67 | Q>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079576 | 67 | Q>del | CLCD1; decreased subcellular localization in the nucleus; decreased transactivation activity [UniProt] | Yes | UniProt |
|
rs1798243790 RCV001268933 |
68 | Q>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253569 rs774631263 RCV001780200 |
71 | Q>* | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880313 RCV000009878 |
72 | E>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000662189 RCV000662190 rs1554384228 |
73 | A>missing | Cleidocranial dysostosis Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1338909353 RCV000662187 RCV000662188 |
79 | A>missing | Cleidocranial dysostosis Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002293411 rs606231174 |
80 | A>missing | Cleidocranial dysplasia 1, forme fruste, with brachydactyly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000956383 RCV000243178 rs11498192 RCV000987708 |
84 | A>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_012130 | 84 | A>AAAAAAAAAAA | CLCD1; the patient also shows brachydactyly of hands and feet [UniProt] | Yes | UniProt |
|
rs772777645 RCV001315668 RCV002545084 CA3836362 |
92 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3836366 rs754711247 RCV001163474 |
100 | R>S | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_012132 | 113 | L>R | CLCD1; unchanged subcellular localization; decreased transactivation activity [UniProt] | Yes | UniProt |
| VAR_064082 | 118 | S>N | CLCD1 [UniProt] | Yes | UniProt |
| VAR_012133 | 118 | S>R | CLCD1 [UniProt] | Yes | UniProt |
| VAR_012134 | 121 | F>C | CLCD1 [UniProt] | Yes | UniProt |
| VAR_012135 | 123 | C>R | CLCD1 [UniProt] | Yes | UniProt |
|
CA363958570 rs1582095105 RCV001028053 |
123 | C>Y | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1582095109 RCV000987709 CA363958581 |
124 | S>* | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_064083 | 131 | R>C | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064084 | 131 | R>G | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064085 | 131 | R>S | CLCD1 [UniProt] | Yes | UniProt |
| VAR_012136 | 133 | N>del | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064086 | 136 | L>P | CLCD1 [UniProt] | Yes | UniProt |
|
rs1798551566 RCV001268937 |
148 | V>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064087 | 156 | V>D | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064088 | 156 | V>G | CLCD1 [UniProt] | Yes | UniProt |
|
CA339769 rs864621970 RCV000206373 |
159 | G>D | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002032504 rs1477047335 CA363960004 RCV001163475 |
161 | D>N | Cleidocranial dysostosis Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA280142 VAR_064089 RCV000009890 rs104893995 |
169 | R>P | Cleidocranial dysostosis CLCD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_012137 CA3836413 rs104893995 |
169 | R>Q | Variant assessed as Somatic; 0.0 impact. CLCD1 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA363960137 RCV001364541 RCV001268934 rs1203066173 |
169 | R>W | Variant assessed as Somatic; 0.0 impact. Cleidocranial dysostosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
| VAR_064090 | 175 | M>K | CLCD1 [UniProt] | Yes | UniProt |
|
CA280136 VAR_012138 RCV000009881 rs104893989 |
175 | M>R | Cleidocranial dysostosis CLCD1; abolishes DNA binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_064091 rs201647225 RCV001163476 CA3836415 RCV002558570 |
175 | M>V | Cleidocranial dysostosis CLCD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_079577 | 186 | R>T | CLCD1; unchanged subcellular localization; decreased transactivation activity [UniProt] | Yes | UniProt |
| VAR_064092 | 187 | F>S | CLCD1 [UniProt] | Yes | UniProt |
|
rs1057521068 VAR_012139 RCV001262450 RCV000430285 CA16605051 |
190 | R>Q | Cleidocranial dysostosis CLCD1; abolishes DNA binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_012140 | 190 | R>W | CLCD1; has severely impaired DNA binding and transactivation [UniProt] | Yes | UniProt |
|
CA280137 RCV000009882 VAR_012141 rs104893990 |
191 | S>N | Cleidocranial dysostosis CLCD1; abolishes DNA binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA363960500 rs1582105417 RCV001384066 RCV001029809 |
193 | R>* | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_012142 | 193 | R>C | CLCD1 [UniProt] | Yes | UniProt |
| VAR_079578 | 193 | R>G | CLCD1; unchanged subcellular localization; decreased transactivation activity [UniProt] | Yes | UniProt |
| VAR_064093 | 193 | R>Q | CLCD1 [UniProt] | Yes | UniProt |
| VAR_012143 | 197 | F>S | CLCD1; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity [UniProt] | Yes | UniProt |
|
rs1798733144 RCV001268939 |
198 | T>* | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_012144 | 199 | L>F | CLCD1; abolishes DNA binding [UniProt] | Yes | UniProt |
|
RCV000009887 VAR_012145 rs104893993 RCV002293413 CA120288 |
200 | T>A | CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY Cleidocranial dysostosis CLCD1; mild; associated also with isolated dental anomalies; normal DNA binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_064094 | 200 | T>I | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064095 | 201 | I>K | CLCD1 [UniProt] | Yes | UniProt |
|
rs762910660 RCV001163762 CA3836447 |
205 | T>A | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_012146 | 205 | T>R | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064096 | 209 | Q>H | CLCD1 [UniProt] | Yes | UniProt |
| VAR_012147 | 209 | Q>R | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064097 | 211 | A>P | CLCD1 [UniProt] | Yes | UniProt |
|
rs1798735440 RCV001293454 |
213 | Y>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064098 | 218 | K>E | CLCD1 [UniProt] | Yes | UniProt |
|
VAR_064099 rs752933596 CA3836452 |
218 | K>N | CLCD1; has severely impaired DNA binding and transactivation [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
| VAR_064100 | 218 | K>Q | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064101 | 220 | T>I | CLCD1; has severely impaired DNA binding and transactivation [UniProt] | Yes | UniProt |
| VAR_064102 | 225 | R>L | CLCD1 [UniProt] | Yes | UniProt |
|
CA280138 RCV002482851 VAR_012148 rs104893991 RCV000009885 RCV000731332 |
225 | R>Q | Cleidocranial dysostosis CLCD1; interferes with nuclear localization; abolishes DNA binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104893992 RCV001090594 RCV000009886 VAR_012149 CA280139 |
225 | R>W | Cleidocranial dysostosis CLCD1; interferes with nuclear localization; has severely impaired DNA binding and transactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_064103 | 228 | R>G | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064104 | 233 | K>R | CLCD1 [UniProt] | Yes | UniProt |
|
RCV001328261 rs1800492946 |
257 | M>missing | Nephrotic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064105 | 287 | D>N | CLCD1 [UniProt] | Yes | UniProt |
|
CA3836513 RCV002504520 rs148326029 RCV001334676 |
288 | P>L | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000374592 rs201584115 CA3836517 RCV001850908 |
296 | P>L | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA280134 RCV000009879 rs104893988 |
297 | W>* | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA363955991 rs535706340 RCV001163763 |
313 | P>Q | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1802363925 VAR_064106 RCV001090595 |
362 | A>V | CLCD1 [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1802414251 RCV001268935 |
363 | G>V | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001386486 RCV000055836 CA344950 rs397515537 |
391 | R>* | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1802417423 RCV001257150 |
398 | F>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079579 | 400 | Y>del | CLCD1; unchanged subcellular localization; decreased transactivation activity [UniProt] | Yes | UniProt |
|
RCV001163764 rs1802417971 |
402 | P>S | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730880314 RCV001823712 |
403 | P>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000009891 rs730880315 |
410 | L>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_064107 | 420 | T>I | CLCD1 [UniProt] | Yes | UniProt |
| VAR_064108 | 420 | T>N | CLCD1 [UniProt] | Yes | UniProt |
|
rs1802421481 RCV001268936 |
428 | G>missing | Cleidocranial dysostosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001869165 RCV000784915 rs768473049 CA3836615 RCV000784916 |
460 | P>L | Cleidocranial dysostosis Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_079580 | 462 | G>del | CLCD1; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation [UniProt] | Yes | UniProt |
|
RCV002293412 rs1582232661 RCV002512952 RCV001851777 |
463 | D>missing | Cleidocranial dysostosis Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002504174 rs11498198 RCV000514756 RCV000335280 VAR_012150 CA3836643 |
511 | G>S | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000009889 rs104893994 CA280140 |
522 | Y>S | Cleidocranial dysostosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562961725 RCV000784917 |
1 | M>I | No |
ClinVar dbSNP |
|
|
rs75454554 CA138412192 |
3 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs75454554 CA3836177 |
3 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs541256105 CA3836178 |
5 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746275240 CA3836180 |
11 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs373621180 CA138412199 |
12 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373621180 CA3836182 |
12 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779487649 CA3836181 |
12 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA363956232 rs1308444345 |
13 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA363956231 rs1308444345 |
13 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768149057 CA138412202 |
14 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768149057 CA3836183 |
14 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363956241 rs1584936285 |
14 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 15 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441434124 CA363956246 |
15 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA363956269 rs1220365106 |
18 | F>L | No |
ClinGen gnomAD |
|
|
CA363956273 rs1292121646 |
18 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554346188 CA363956278 |
19 | W>R | No |
ClinGen Ensembl |
|
|
rs776156260 CA3836184 |
20 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3836250 rs780033324 |
21 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771988272 CA3836249 |
21 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3836252 rs768497827 |
22 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776729949 CA3836253 |
23 | T>P | No |
ClinGen ExAC |
|
|
CA363957579 rs1384263802 |
25 | R>P | No |
ClinGen gnomAD |
|
|
rs1180264044 CA363957586 |
26 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457634604 CA363957588 |
27 | F>L | No |
ClinGen TOPMed |
|
|
CA3836256 rs114654066 |
29 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs114654066 CA3836255 |
29 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs990671181 CA363957607 |
30 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA363957609 rs573668161 |
30 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3836258 rs573668161 |
30 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs990671181 CA138433973 |
30 | P>T | No |
ClinGen TOPMed gnomAD |
|
| rs397515538 | 31 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs397515538 | 31 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138433978 rs759530807 |
31 | S>T | No |
ClinGen Ensembl |
|
|
rs1336402260 CA363957622 |
32 | S>R | No |
ClinGen gnomAD |
|
|
rs1384459632 CA363957626 |
33 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3836260 rs534661233 |
34 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1358936930 CA363957638 |
35 | Q>* | No |
ClinGen gnomAD |
|
|
CA363957641 rs1442575261 |
35 | Q>H | No |
ClinGen gnomAD |
|
|
rs1048885121 CA138433982 |
35 | Q>L | No |
ClinGen TOPMed |
|
|
rs1048885121 CA363957640 |
35 | Q>R | No |
ClinGen TOPMed |
|
|
rs1247004200 CA363957644 |
36 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1247004200 CA363957645 |
36 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs868562578 CA138433985 |
37 | G>D | No |
ClinGen Ensembl |
|
|
CA3836261 rs760049118 |
37 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363957665 rs1195139165 |
39 | M>T | No |
ClinGen gnomAD |
|
|
CA3836262 rs202042342 |
41 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200687912 CA138433987 |
41 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1013030225 CA138433990 |
42 | V>A | No |
ClinGen TOPMed |
|
|
rs753332305 CA363957684 |
42 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363957701 rs1242010684 |
44 | P>L | No |
ClinGen gnomAD |
|
|
rs1242010684 CA363957700 |
44 | P>R | No |
ClinGen gnomAD |
|
|
CA363957707 rs1405128308 |
45 | V>G | No |
ClinGen TOPMed |
|
|
RCV000596521 rs368475300 CA3836273 RCV002531063 |
51 | Q>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1328346387 CA363957745 |
51 | Q>R | No |
ClinGen gnomAD |
|
|
CA3836280 rs758173198 |
54 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1393672497 CA363957781 |
56 | Q>* | No |
ClinGen gnomAD |
|
|
rs747537373 RCV000596630 |
63 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1490532126 CA363957847 |
64 | Q>R | No |
ClinGen TOPMed |
|
|
CA363957852 rs1332669852 |
65 | Q>E | No |
ClinGen gnomAD |
|
|
rs575896136 CA363957858 |
65 | Q>H | No |
ClinGen 1000Genomes TOPMed |
|
|
RCV001307834 rs774172072 |
65 | Q>missing | No |
ClinVar dbSNP |
|
|
RCV000193162 RCV000723609 rs774172072 |
65 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1243134950 CA363957863 |
66 | Q>R | No |
ClinGen gnomAD |
|
|
rs1798243337 RCV001321987 |
67 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1286291849 CA363957871 |
67 | Q>R | No |
ClinGen gnomAD |
|
|
rs781355841 RCV001048619 |
67 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1582094334 CA363957867 |
67 | Q>* | No |
ClinGen Ensembl |
|
|
CA363957879 rs1356693369 |
68 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769836316 CA3836301 |
69 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1261964211 CA363957886 |
69 | Q>R | No |
ClinGen gnomAD |
|
|
rs1461425292 CA363957892 |
70 | Q>* | No |
ClinGen gnomAD |
|
|
CA3836303 rs763117080 |
70 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759395776 RCV001339997 |
70 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1255698663 CA363957895 |
70 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3836305 rs774631263 |
71 | Q>E | No |
ClinGen ExAC |
|
|
CA3836316 rs767984534 |
72 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs759833497 CA3836309 |
72 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363957930 rs1374009579 |
73 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1192865947 CA363957925 |
73 | A>T | No |
ClinGen gnomAD |
|
|
CA3836322 rs753139240 |
74 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363957959 rs1174985080 |
75 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363957980 rs542999615 |
77 | A>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs542999615 CA3836330 |
77 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA363957983 rs1470370276 |
77 | A>V | No |
ClinGen gnomAD |
|
|
rs749974335 CA363957999 |
78 | A>E | No |
ClinGen ExAC TOPMed |
|
|
CA3836337 rs749974335 |
78 | A>V | No |
ClinGen ExAC TOPMed |
|
| VAR_012131 | 78 | A>del | No | UniProt | |
|
rs1383016935 CA363958009 |
79 | A>T | No |
ClinGen gnomAD |
|
|
rs758081090 CA3836342 |
79 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836343 rs766130437 |
80 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138434061 rs1041352009 |
81 | A>E | No |
ClinGen TOPMed |
|
|
CA363958031 rs1231971719 |
81 | A>T | No |
ClinGen TOPMed |
|
|
CA3836346 rs781083561 |
82 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3836352 rs777793369 |
84 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363958072 rs1485309580 |
84 | A>V | No |
ClinGen gnomAD |
|
|
RCV000999874 CA3836354 RCV000435406 rs372138746 |
85 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3836357 rs746166928 |
86 | A>E | No |
ClinGen ExAC |
|
|
CA3836358 rs772291669 |
87 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761037120 CA363958118 |
88 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs761037120 CA3836360 |
88 | A>T | No |
ClinGen ExAC TOPMed |
|
|
RCV001065183 rs746557318 |
89 | A>missing | No |
ClinVar dbSNP |
|
|
rs1429247338 CA363958142 |
90 | V>L | No |
ClinGen gnomAD |
|
|
CA363958165 rs772777645 |
92 | R>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001171861 rs1798255831 |
93 | L>* | No |
ClinVar dbSNP |
|
|
CA363958196 rs1386843651 |
95 | P>Q | No |
ClinGen gnomAD |
|
|
CA363958220 rs1183896411 |
97 | H>Q | No |
ClinGen TOPMed |
|
|
CA363958217 rs1582094936 |
97 | H>R | No |
ClinGen Ensembl |
|
|
rs766042547 CA3836364 |
98 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3836365 rs150962268 |
99 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754711247 CA363958249 |
100 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3836367 rs767171242 |
100 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3836371 rs749283473 |
102 | M>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001327146 CA3836370 rs376849024 |
102 | M>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA363958306 rs1485928187 |
103 | V>A | No |
ClinGen TOPMed |
|
|
CA363958295 rs1199502681 |
103 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138434095 rs528470044 |
107 | A>V | No |
ClinGen 1000Genomes |
|
|
CA363958392 rs1352066437 |
109 | H>L | No |
ClinGen TOPMed |
|
|
CA363958385 rs1490639289 |
109 | H>N | No |
ClinGen gnomAD |
|
|
rs1490639289 CA363958388 |
109 | H>Y | No |
ClinGen gnomAD |
|
|
rs1798259380 RCV001090593 |
110 | P>missing | No |
ClinVar dbSNP |
|
|
rs150088136 CA3836374 |
110 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1342614199 CA363958413 |
111 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363958415 rs1418628831 |
112 | E>K | No |
ClinGen gnomAD |
|
|
rs762474281 CA363958477 |
117 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363958475 rs762474281 |
117 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836380 rs762474281 |
117 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1040117474 CA138434107 |
119 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 120 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582095109 RCV001308007 |
124 | S>W | No |
ClinVar dbSNP |
|
|
rs1371950698 CA363958610 |
127 | P>T | No |
ClinGen gnomAD |
|
|
rs1308549222 CA363958663 |
131 | R>H | No |
ClinGen gnomAD |
|
|
rs1582095141 CA363958681 |
133 | N>K | No |
ClinGen Ensembl |
|
|
rs1356764547 CA363958678 |
133 | N>S | No |
ClinGen gnomAD |
|
|
rs760449546 CA3836386 |
139 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473913096 CA363959740 |
142 | V>L | No |
ClinGen gnomAD |
|
|
rs759100705 CA3836402 |
145 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA363959777 rs1428979499 |
146 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363959804 rs760361518 |
147 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3836404 rs370512978 |
147 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763852761 CA3836406 |
149 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA363959857 rs1360487110 |
151 | G>A | No |
ClinGen gnomAD |
|
|
CA3836408 rs373029816 |
152 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs890650107 CA138436181 |
156 | V>I | No |
ClinGen Ensembl |
|
|
rs1426085360 CA363959946 |
157 | M>T | No |
ClinGen TOPMed |
|
|
rs1582105270 CA363959986 |
160 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 161 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780062825 CA3836412 |
162 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1046036307 CA138436189 |
163 | N>K | No |
ClinGen Ensembl |
|
|
CA138436191 rs906195232 |
165 | S>F | No |
ClinGen Ensembl |
|
|
rs1001873615 CA138436196 |
170 | N>K | No |
ClinGen TOPMed |
|
|
rs568476296 CA3836414 |
174 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363960204 rs1563083758 |
174 | V>L | No |
ClinGen Ensembl |
|
|
rs104893989 CA3836416 |
175 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3836417 CA363960262 RCV000278819 rs147359883 |
177 | N>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1563083773 CA363960255 |
177 | N>T | No |
ClinGen Ensembl |
|
|
CA363960273 rs1195717789 |
178 | Q>R | No |
ClinGen gnomAD |
|
|
CA3836418 rs182416246 |
179 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1480082466 CA363960295 |
180 | A>T | No |
ClinGen gnomAD |
|
|
rs115974315 CA363960363 |
183 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113836922 CA138437515 |
198 | T>A | No |
ClinGen Ensembl |
|
|
rs147009083 CA3836444 |
203 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3836446 rs772926106 |
204 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1305465503 CA363955215 |
211 | A>S | No |
ClinGen TOPMed |
|
|
CA3836448 rs138138469 |
213 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774518258 CA3836449 |
214 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759679284 CA3836450 |
215 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1798735983 RCV001315592 |
216 | A>E | No |
ClinVar dbSNP |
|
| TCGA novel | 217 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363955356 rs1217642791 |
219 | V>I | No |
ClinGen gnomAD |
|
|
RCV001326052 rs1798736907 |
222 | D>H | No |
ClinVar dbSNP |
|
| TCGA novel | 223 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325045940 CA363955433 |
224 | P>H | No |
ClinGen TOPMed |
|
|
rs866927887 CA138437531 |
224 | P>S | No |
ClinGen Ensembl |
|
|
rs765653239 CA3836474 |
230 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA363957949 rs1405556189 |
232 | Q>E | No |
ClinGen gnomAD |
|
|
rs1289838464 CA363957981 |
234 | L>P | No |
ClinGen TOPMed |
|
|
rs780701424 CA3836477 |
235 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3836476 rs373709122 |
235 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA138448272 rs180860949 |
236 | D>V | No |
ClinGen 1000Genomes |
|
|
CA138448273 rs186720964 |
239 | P>L | No |
ClinGen 1000Genomes |
|
|
rs752156180 CA3836478 |
239 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3836479 rs752156180 |
239 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA363958035 rs1319345318 |
240 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs749040759 CA3836481 |
240 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3836482 rs770818987 |
243 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs778901535 CA3836483 |
244 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1354561966 CA363958080 |
244 | D>H | No |
ClinGen TOPMed |
|
|
CA363958092 rs1201891556 |
245 | R>C | No |
ClinGen gnomAD |
|
|
CA363958096 rs1310889814 |
245 | R>H | No |
ClinGen TOPMed |
|
|
rs745752587 CA3836484 |
246 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3836485 rs11498200 |
251 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376891808 CA3836486 |
251 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA138448275 rs11498200 |
251 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836487 rs377128508 |
254 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1158008972 CA363958227 |
255 | P>H | No |
ClinGen TOPMed |
|
|
CA3836489 rs776708490 |
256 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138448276 rs776708490 |
256 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414370387 CA363958256 |
257 | M>T | No |
ClinGen TOPMed |
|
|
rs1428685613 CA363958271 |
258 | R>I | No |
ClinGen gnomAD |
|
|
rs1466738996 CA363958274 |
259 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3836490 rs762058135 |
261 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1407250057 CA363958307 |
262 | P>L | No |
ClinGen Ensembl |
|
|
rs563772449 CA3836491 |
263 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563772449 CA3836492 |
263 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1221616975 CA363958334 |
265 | N>H | No |
ClinGen gnomAD |
|
|
rs1234937174 CA363958362 |
267 | R>Q | No |
ClinGen gnomAD |
|
|
CA3836493 rs370486033 |
267 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766812325 CA3836494 |
268 | P>R | No |
ClinGen ExAC |
|
|
CA363958407 rs1190085215 |
271 | N>D | No |
ClinGen TOPMed |
|
|
rs1443448373 CA363958447 |
273 | A>P | No |
ClinGen TOPMed |
|
|
rs1443448373 CA363958443 |
273 | A>T | No |
ClinGen TOPMed |
|
|
CA363958456 rs1349550429 |
274 | P>T | No |
ClinGen gnomAD |
|
|
CA363958486 rs1203966568 |
276 | P>R | No |
ClinGen TOPMed |
|
|
rs755578627 CA3836496 |
276 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1463155276 CA363958510 |
278 | N>I | No |
ClinGen TOPMed |
|
|
rs1489516989 CA363958562 |
282 | Q>R | No |
ClinGen gnomAD |
|
|
rs1033729267 CA138453326 |
287 | D>A | No |
ClinGen Ensembl |
|
|
rs1033729267 RCV000482841 CA16618291 |
287 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1179560763 CA363955831 |
288 | P>S | No |
ClinGen gnomAD |
|
|
rs760143015 CA3836514 |
290 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA363955843 rs1311296877 |
290 | Q>K | No |
ClinGen gnomAD |
|
|
CA363955850 rs1244922471 |
291 | A>P | No |
ClinGen gnomAD |
|
|
rs763466386 CA363955877 |
295 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763466386 CA3836515 |
295 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363955881 rs1554397657 RCV000507803 |
296 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs370331024 CA3836519 |
300 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1447043793 CA363955910 |
300 | D>V | No |
ClinGen gnomAD |
|
|
CA3836520 rs758120505 |
301 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836521 rs779939748 |
301 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836522 rs746897678 |
302 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363955923 rs1312487890 |
302 | S>F | No |
ClinGen gnomAD |
|
|
CA3836523 rs754963913 |
303 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs748242152 CA363955934 |
304 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836525 rs748242152 |
304 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781207125 CA3836524 |
304 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769922027 CA3836526 |
305 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199475592 CA363955943 |
306 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363955961 rs1181014657 |
308 | S>R | No |
ClinGen gnomAD |
|
|
rs1443036287 CA363955954 |
308 | S>R | No |
ClinGen gnomAD |
|
|
CA363955975 rs1414266851 |
310 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3836528 rs749565421 |
311 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138453344 rs78532572 |
312 | S>P | No |
ClinGen Ensembl |
|
|
rs774805163 CA3836530 |
313 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA138453347 rs535706340 |
313 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3836531 rs535706340 |
313 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363955996 rs1451478006 |
314 | S>F | No |
ClinGen gnomAD |
|
|
CA3836533 rs776221631 |
314 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs891974332 CA138453353 |
315 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3836534 rs761391105 |
318 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746114073 CA3836535 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 321 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751400416 CA3836539 |
325 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476037778 CA363956060 |
326 | G>S | No |
ClinGen TOPMed |
|
|
rs143092997 CA3836540 |
326 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781096197 CA3836541 |
330 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1382629082 CA363956083 |
330 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs114554762 CA363956091 |
331 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3836542 rs114554762 |
331 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363956090 rs1582191853 |
331 | A>S | No |
ClinGen Ensembl |
|
|
CA138453363 rs750138653 |
333 | T>N | No |
ClinGen Ensembl |
|
|
CA3836545 rs749426825 |
334 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs749426825 CA138453368 |
334 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA363956105 rs373752642 |
334 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373752642 CA3836544 |
334 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363956114 rs1426595686 |
335 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs771219239 CA3836546 |
335 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1366398692 CA363956120 |
336 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3836547 rs779082630 |
338 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367898326 CA3836548 |
338 | R>H | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1034799474 CA138453372 |
339 | I>T | No |
ClinGen Ensembl |
|
|
rs1388460369 CA363956305 |
341 | D>E | No |
ClinGen TOPMed |
|
|
CA363956303 rs1369927853 |
341 | D>G | No |
ClinGen gnomAD |
|
|
CA363956309 rs1222286451 |
342 | D>N | No |
ClinGen gnomAD |
|
|
rs1354211513 CA363956328 |
344 | T>I | No |
ClinGen gnomAD |
|
|
CA363956335 rs1582230227 |
346 | T>P | No |
ClinGen Ensembl |
|
|
rs940656370 CA138460141 |
348 | D>G | No |
ClinGen Ensembl |
|
|
rs1254496350 CA363956390 |
353 | P>L | No |
ClinGen gnomAD |
|
|
rs1289456738 CA363956387 |
353 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450988498 CA363956398 |
355 | T>A | No |
ClinGen gnomAD |
|
|
CA363956434 rs1468281184 |
360 | S>G | No |
ClinGen gnomAD |
|
|
CA363956438 rs1177692351 |
360 | S>T | No |
ClinGen gnomAD |
|
|
rs1297710073 CA363956446 |
361 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 362 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140165241 CA3836577 |
367 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 368 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767251365 CA3836578 |
369 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401233132 CA363956534 |
373 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563133543 CA363956530 |
373 | P>S | No |
ClinGen Ensembl |
|
|
CA3836579 rs752525068 |
378 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs760543307 CA3836580 |
378 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA363956583 rs1339712379 |
380 | S>L | No |
ClinGen gnomAD |
|
|
rs1341793914 CA363956587 |
381 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 382 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753780685 CA3836582 |
386 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836583 rs757351966 |
386 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388215851 CA363956636 |
389 | N>H | No |
ClinGen TOPMed |
|
|
CA3836586 rs115347084 |
389 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363956639 rs115347084 |
389 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780524636 CA3836587 |
391 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461715414 CA363956671 |
394 | Y>D | No |
ClinGen TOPMed |
|
|
CA3836588 rs747380594 |
394 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs755482498 CA3836589 |
395 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA138460447 rs1022790945 |
396 | A>V | No |
ClinGen gnomAD |
|
|
CA363956686 rs1582232295 |
397 | T>P | No |
ClinGen Ensembl |
|
|
CA363956710 rs1477135017 |
400 | Y>C | No |
ClinGen gnomAD |
|
|
CA3836591 rs748644984 |
401 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs770452837 CA3836592 |
402 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376694142 CA3836594 |
403 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001268353 rs1802418386 |
404 | V>missing | No |
ClinVar dbSNP |
|
|
CA363956749 rs1269813407 |
407 | G>C | No |
ClinGen TOPMed |
|
|
CA138460456 rs1032694844 |
408 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 410 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338264589 CA363956778 |
411 | G>V | No |
ClinGen gnomAD |
|
|
rs1582232402 CA363956789 |
413 | S>P | No |
ClinGen Ensembl |
|
|
rs763860044 CA3836598 |
414 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138460461 rs1024556116 |
416 | T>S | No |
ClinGen TOPMed |
|
|
rs1319458779 CA363956812 |
417 | H>D | No |
ClinGen gnomAD |
|
|
CA363956848 rs1255011742 |
421 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1345306388 CA363956852 |
422 | L>M | No |
ClinGen gnomAD |
|
|
CA3836600 rs761701398 |
425 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA363956868 rs1305087594 |
425 | P>T | No |
ClinGen TOPMed |
|
|
rs1554125882 RCV000486764 |
426 | Y>missing | No |
ClinVar dbSNP |
|
|
rs765308202 CA3836601 |
427 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758626590 CA3836603 |
428 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582232511 CA363956895 |
429 | S>F | No |
ClinGen Ensembl |
|
|
rs983870571 CA138460473 |
429 | S>P | No |
ClinGen Ensembl |
|
|
CA138460474 rs868388482 |
430 | S>F | No |
ClinGen Ensembl |
|
|
rs1196892781 CA363956905 |
431 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 432 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138460476 rs144760627 |
432 | S>R | No |
ClinGen ESP TOPMed |
|
|
rs1377237744 CA363956921 |
433 | Q>R | No |
ClinGen gnomAD |
|
|
CA363956928 rs1210047580 |
434 | S>N | No |
ClinGen gnomAD |
|
|
rs751887748 CA3836606 |
436 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751887748 CA3836605 |
436 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363956941 rs1172059142 |
436 | P>S | No |
ClinGen TOPMed |
|
|
rs748640088 CA3836608 |
439 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748640088 CA138460482 |
439 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA363956978 CA363956979 rs974164696 |
441 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 443 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180944672 CA363957001 |
445 | L>V | No |
ClinGen TOPMed |
|
|
CA363957023 rs1384517929 |
448 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3836609 rs369481795 |
450 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363957046 rs1235041904 |
452 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3836612 rs771630924 |
453 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1216479084 CA363957060 |
454 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1216479084 CA363957061 |
454 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1234539221 CA363957057 |
454 | Y>H | No |
ClinGen TOPMed |
|
|
CA363957067 rs1182756497 |
455 | Q>P | No |
ClinGen gnomAD |
|
|
rs1306807681 CA363957073 |
456 | F>L | No |
ClinGen TOPMed |
|
|
rs775121825 CA3836613 |
456 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA138460496 rs932622541 |
457 | P>L | No |
ClinGen TOPMed |
|
|
rs746700872 CA3836614 |
457 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3836619 rs554124503 |
461 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765089321 CA3836618 |
461 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1561822364 | 462 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378225599 CA363957113 |
463 | D>N | No |
ClinGen gnomAD |
|
|
CA138460503 rs148639759 |
464 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3836621 rs148639759 |
464 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3836620 rs373218126 |
464 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144852234 CA138460506 |
466 | P>L | No |
ClinGen Ensembl |
|
|
rs751811026 CA3836622 |
466 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142108189 CA3836626 |
471 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1173869662 CA363957171 |
472 | P>L | No |
ClinGen gnomAD |
|
|
CA363957193 rs1310470522 |
476 | T>A | No |
ClinGen gnomAD |
|
|
rs1319186519 CA363957197 |
476 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3836631 rs746611102 |
479 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA363957220 rs1215754855 |
480 | S>N | No |
ClinGen gnomAD |
|
|
CA3836632 rs768220317 |
481 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3836633 rs780973109 |
481 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773277224 CA3836636 |
485 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1421970328 CA363957251 |
485 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363957249 rs1421970328 |
485 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1041952480 CA138460522 |
488 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 493 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363957308 rs1445706105 |
493 | G>S | No |
ClinGen TOPMed |
|
|
CA3836638 rs771087017 |
495 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3836639 rs774604105 |
496 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3836640 rs759738332 |
497 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA363957340 rs1322886581 |
498 | G>E | No |
ClinGen gnomAD |
|
|
CA363957337 rs1312686830 |
498 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753025447 CA3836642 |
505 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1199568242 CA363957398 |
507 | L>M | No |
ClinGen gnomAD |
|
|
CA363957422 rs1401522703 |
510 | S>N | No |
ClinGen TOPMed |
|
|
CA138460539 rs11498198 |
511 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA138460537 rs11498198 |
511 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754318665 CA3836645 |
513 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA363957445 rs1256708103 |
514 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 514 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363957481 rs1362755731 |
518 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA363957484 rs1218682510 |
519 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
2 associated diseases with Q13950
[MIM: 119600]: Cleidocranial dysplasia (CLCD)
Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies. {ECO:0000269|PubMed:10521292, ECO:0000269|PubMed:10545612, ECO:0000269|PubMed:10689183, ECO:0000269|PubMed:10980549, ECO:0000269|PubMed:11857736, ECO:0000269|PubMed:12081718, ECO:0000269|PubMed:12196916, ECO:0000269|PubMed:12424590, ECO:0000269|PubMed:16270353, ECO:0000269|PubMed:19744171, ECO:0000269|PubMed:20082269, ECO:0000269|PubMed:20648631, ECO:0000269|PubMed:24984680, ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28703881, ECO:0000269|PubMed:28738062, ECO:0000269|PubMed:9182765, ECO:0000269|PubMed:9207800}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 156510]: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB)
An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. {ECO:0000269|PubMed:23290074}. Note=The disease is caused by variants affecting the gene represented in this entry. Analysis for copy-number variations revealed that a 105 kb duplication within RUNX2 segregated with the MDMHB phenotype in a region with maximum linkage. Real-time PCR for copy-number variation in genomic DNA in eight samples, as well as sequence analysis of fibroblast cDNA from one subject with MDMHB confirmed that affected family members were heterozygous for the presence of an intragenic duplication encompassing exons 3 to 5 of RUNX2. These three exons code for the Q/A domain and the functionally essential DNA-binding Runt domain of RUNX2. The RUNX2 duplication found in individuals with MDMHB leads to a gain of function (PubMed:23290074). {ECO:0000269|PubMed:23290074}.
Without disease ID
- Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies. {ECO:0000269|PubMed:10521292, ECO:0000269|PubMed:10545612, ECO:0000269|PubMed:10689183, ECO:0000269|PubMed:10980549, ECO:0000269|PubMed:11857736, ECO:0000269|PubMed:12081718, ECO:0000269|PubMed:12196916, ECO:0000269|PubMed:12424590, ECO:0000269|PubMed:16270353, ECO:0000269|PubMed:19744171, ECO:0000269|PubMed:20082269, ECO:0000269|PubMed:20648631, ECO:0000269|PubMed:24984680, ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28703881, ECO:0000269|PubMed:28738062, ECO:0000269|PubMed:9182765, ECO:0000269|PubMed:9207800}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. {ECO:0000269|PubMed:23290074}. Note=The disease is caused by variants affecting the gene represented in this entry. Analysis for copy-number variations revealed that a 105 kb duplication within RUNX2 segregated with the MDMHB phenotype in a region with maximum linkage. Real-time PCR for copy-number variation in genomic DNA in eight samples, as well as sequence analysis of fibroblast cDNA from one subject with MDMHB confirmed that affected family members were heterozygous for the presence of an intragenic duplication encompassing exons 3 to 5 of RUNX2. These three exons code for the Q/A domain and the functionally essential DNA-binding Runt domain of RUNX2. The RUNX2 duplication found in individuals with MDMHB leads to a gain of function (PubMed:23290074). {ECO:0000269|PubMed:23290074}.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| bHLH transcription factor binding | Binding to a basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways. |
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| 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 | 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. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| 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. |
38 GO annotations of biological process
| Name | Definition |
|---|---|
| BMP signaling pathway | The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| cell maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. |
| cellular response to BMP stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bone morphogenetic protein (BMP) stimulus. |
| chondrocyte development | The process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. |
| chondrocyte differentiation | The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage. |
| embryonic cranial skeleton morphogenesis | The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase. |
| embryonic forelimb morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human. |
| endochondral ossification | Replacement ossification wherein bone tissue replaces cartilage. |
| epithelial cell proliferation | The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| ligamentous ossification | Ossification wherein bone tissue forms within ligamentous tissue. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of smoothened signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| odontogenesis of dentin-containing tooth | The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| osteoblast development | The process whose specific outcome is the progression of an osteoblast over time, from its formation to the mature structure. Osteoblast development does not include the steps involved in committing a cranial neural crest cell or an osteoprogenitor cell to an osteoblast fate. An osteoblast is a cell that gives rise to bone. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| osteoblast fate commitment | The commitment of mesenchymal cells to the specific cell fate of an osteoblast. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone. |
| positive regulation of chondrocyte differentiation | Any process that activates or increases the frequency, rate or extent of chondrocyte differentiation. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of epithelial cell proliferation | Any process that activates or increases the rate or extent of epithelial cell proliferation. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| positive regulation of stem cell proliferation | Any process that activates or increases the frequency, rate or extent of stem cell proliferation. |
| 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. |
| positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus. |
| regulation of cell differentiation | Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. |
| regulation of fibroblast growth factor receptor signaling pathway | Any process that modulates the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity. |
| regulation of odontogenesis of dentin-containing tooth | Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. |
| regulation of ossification | Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to L-ascorbic acid | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an L-ascorbic acid (vitamin C) stimulus. |
| response to sodium phosphate | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a sodium phosphate stimulus. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
| stem cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| stem cell proliferation | The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| T cell differentiation | The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q01196 | RUNX1 | Runt-related transcription factor 1 | Homo sapiens (Human) | PR |
| Q13761 | RUNX3 | Runt-related transcription factor 3 | Homo sapiens (Human) | PR |
| Q03347 | Runx1 | Runt-related transcription factor 1 | Mus musculus (Mouse) | PR |
| Q08775 | Runx2 | Runt-related transcription factor 2 | Mus musculus (Mouse) | PR |
| Q63046 | Runx1 | Runt-related transcription factor 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASNSLFSTV | TPCQQNFFWD | PSTSRRFSPP | SSSLQPGKMS | DVSPVVAAQQ | QQQQQQQQQQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QQQQQQQQQQ | QEAAAAAAAA | AAAAAAAAAV | PRLRPPHDNR | TMVEIIADHP | AELVRTDSPN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLCSVLPSHW | RCNKTLPVAF | KVVALGEVPD | GTVVTVMAGN | DENYSAELRN | ASAVMKNQVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RFNDLRFVGR | SGRGKSFTLT | ITVFTNPPQV | ATYHRAIKVT | VDGPREPRRH | RQKLDDSKPS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LFSDRLSDLG | RIPHPSMRVG | VPPQNPRPSL | NSAPSPFNPQ | GQSQITDPRQ | AQSSPPWSYD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QSYPSYLSQM | TSPSIHSTTP | LSSTRGTGLP | AITDVPRRIS | DDDTATSDFC | LWPSTLSKKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QAGASELGPF | SDPRQFPSIS | SLTESRFSNP | RMHYPATFTY | TPPVTSGMSL | GMSATTHYHT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YLPPPYPGSS | QSQSGPFQTS | STPYLYYGTS | SGSYQFPMVP | GGDRSPSRML | PPCTTTSNGS |
| 490 | 500 | 510 | 520 | ||
| TLLNPNLPNQ | NDGVDADGSH | SSSPTVLNSS | GRMDESVWRP | Y |