O95238
PR
Gene name |
SPDEF (PDEF, PSE) |
Protein name |
SAM pointed domain-containing Ets transcription factor |
Names |
Prostate epithelium-specific Ets transcription factor, Prostate-specific Ets, Prostate-derived Ets factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25803 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for O95238
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YO5 | X-ray | 200 A | C | 247-335 | PDB |
| 2DKX | NMR | - | A | 131-213 | PDB |
| AF-O95238-F1 | Predicted | AlphaFoldDB |
297 variants for O95238
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3765810 rs779466763 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3765809 rs755382395 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363727554 rs1430735092 |
5 | S>N | No |
ClinGen gnomAD |
|
|
rs754463563 CA3765808 |
6 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754463563 CA363727545 |
6 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363727547 rs1359360803 |
6 | P>S | No |
ClinGen gnomAD |
|
|
CA363727541 rs1375723439 |
7 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200724717 CA3765804 |
11 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363727507 rs1476061427 |
12 | S>F | No |
ClinGen gnomAD |
|
|
CA363727509 rs1476061427 |
12 | S>Y | No |
ClinGen gnomAD |
|
|
CA363727505 rs1179587843 |
13 | P>A | No |
ClinGen TOPMed |
|
|
CA3765802 rs2233637 |
13 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3765801 rs2233637 |
13 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1281341534 CA363727495 CA363727496 |
14 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA363727491 rs1582000228 |
15 | H>P | No |
ClinGen Ensembl |
|
|
rs749268958 CA137215148 |
16 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773098672 CA3765799 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765800 rs759257708 |
19 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137215139 rs1007864934 |
20 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA137215107 rs1007864934 |
20 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1444242252 CA363727462 |
21 | D>N | No |
ClinGen gnomAD |
|
| rs768568534 | 21 | D>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143433433 CA363727452 |
22 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3765795 COSM1266587 rs143433433 |
22 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3765796 rs143433433 |
22 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202233975 CA137215073 |
23 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs370099797 CA3765793 |
24 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370099797 CA363727443 |
24 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765789 rs111716840 |
25 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375427681 COSM1443944 CA3765790 |
25 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs113964160 CA3765788 |
27 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137215038 rs1046745420 |
28 | L>F | No |
ClinGen Ensembl |
|
|
CA363727425 rs1476247689 |
28 | L>S | No |
ClinGen gnomAD |
|
|
rs1269270130 CA363727417 |
29 | E>G | No |
ClinGen gnomAD |
|
|
CA3765787 rs143867487 |
31 | A>V | Variant assessed as Somatic; 6.55e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3765785 rs757318083 |
33 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764241184 CA3765783 |
34 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs754785490 CA3765782 |
35 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372833718 CA3765781 |
36 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372833718 CA363727379 |
36 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234545735 CA363727373 COSM1187012 |
37 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3765780 rs766166304 |
38 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs139080368 CA3765777 |
39 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765778 rs139080368 |
39 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765776 rs761342102 |
40 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3765774 rs749697437 |
41 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749697437 CA3765773 |
41 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369097952 CA3765775 |
41 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA137214954 rs150753759 |
42 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA363727349 rs1400163880 |
42 | D>N | No |
ClinGen gnomAD |
|
|
CA3765772 rs775762763 |
44 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA363727329 rs1463029177 |
44 | S>T | No |
ClinGen gnomAD |
|
|
rs770174828 CA3765771 |
46 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561978677 CA363727311 |
47 | P>S | No |
ClinGen Ensembl |
|
|
CA363727304 rs1477076142 |
48 | P>L | No |
ClinGen gnomAD |
|
|
rs111271155 CA3765767 |
49 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747037762 CA3765766 |
50 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA137214920 rs970699820 |
51 | P>L | No |
ClinGen Ensembl |
|
|
rs755931546 COSM3830307 CA3765761 |
52 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1264318211 CA363727267 |
54 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1264318211 CA363727266 |
54 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3765760 rs750333156 |
56 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3765757 rs2233639 VAR_048955 |
57 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA363727232 rs1176338876 |
60 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454913652 CA363727223 |
61 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1443741744 CA363727221 |
62 | Y>H | No |
ClinGen gnomAD |
|
|
rs763670929 CA3765756 |
63 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3765755 rs762566084 |
66 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs371000636 CA137214873 |
66 | L>V | No |
ClinGen ESP gnomAD |
|
|
CA137214857 rs868137588 |
67 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 69 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347143426 CA363727163 |
70 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3765754 rs775197790 |
72 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770126986 CA3765753 |
73 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1378247620 CA363727130 |
74 | A>V | No |
ClinGen gnomAD |
|
|
rs143277670 CA137214849 |
75 | A>T | No |
ClinGen ESP |
|
|
rs148387831 CA3765752 |
77 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363727112 rs1266617154 |
77 | A>V | No |
ClinGen gnomAD |
|
|
CA3765749 rs2233640 |
78 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3765748 rs2233640 |
78 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143236716 CA3765750 |
78 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779125891 CA3765745 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200023275 CA3765743 |
81 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200023275 CA3765744 |
81 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3765742 rs370655462 |
82 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 82 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3765740 rs572529285 |
83 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200492139 CA3765741 |
83 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149146133 CA137214808 |
85 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs913199058 CA137214795 |
86 | P>S | No |
ClinGen Ensembl |
|
|
CA3765739 rs763757146 |
87 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451304443 CA363727061 |
87 | P>T | No |
ClinGen gnomAD |
|
|
CA137214775 rs938768299 |
88 | E>A | No |
ClinGen gnomAD |
|
|
rs1427612179 CA363727037 |
90 | P>L | No |
ClinGen TOPMed |
|
|
rs762523797 CA3765738 |
90 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363727036 rs1358922575 |
91 | E>K | No |
ClinGen gnomAD |
|
|
rs145301194 CA3765737 |
92 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363727018 rs1561978494 |
93 | C>Y | No |
ClinGen Ensembl |
|
|
rs372475042 CA3765734 |
94 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3765731 rs773702132 |
95 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3765732 rs773702132 |
95 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs772048340 CA363726958 |
102 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363726957 rs772048340 |
102 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765730 rs772048340 |
102 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3765728 rs779027352 |
103 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs749491032 CA3765726 |
104 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3765724 rs2233641 |
108 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375958045 CA363726912 |
110 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375958045 CA3765721 |
110 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765719 rs754670906 |
111 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3765718 rs754670906 |
111 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA3765717 rs200603881 |
116 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363726871 rs766795607 |
117 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA3765716 rs766795607 |
117 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3765715 rs566297295 |
118 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1169279621 CA363726850 |
120 | E>A | No |
ClinGen gnomAD |
|
|
rs1476570785 CA363726839 |
121 | Q>H | No |
ClinGen gnomAD |
|
|
COSM1078235 rs1222066456 CA363726846 |
121 | Q>K | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 122 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363726836 rs1385289916 |
122 | V>L | No |
ClinGen TOPMed |
|
|
rs768021292 CA3765713 |
123 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3765712 rs761830078 |
124 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs765835927 CA137214683 |
125 | M>V | No |
ClinGen gnomAD |
|
|
rs1581999461 CA363726801 |
127 | V>G | No |
ClinGen Ensembl |
|
|
CA363726794 rs1199147858 |
129 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200026971 CA363726784 |
130 | V>A | No |
ClinGen gnomAD |
|
|
CA137214653 rs200026971 |
130 | V>E | No |
ClinGen gnomAD |
|
|
rs200026971 CA363726783 |
130 | V>G | No |
ClinGen gnomAD |
|
|
rs768600116 CA3765710 |
130 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3765709 rs780312982 |
132 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137214639 rs903647798 |
133 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3765708 rs775855317 |
133 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs76762871 CA3765707 |
134 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363726762 rs1340135494 |
134 | I>V | No |
ClinGen gnomAD |
|
|
COSM3430559 CA3765705 rs146713427 |
135 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3765704 rs369481714 |
136 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363726745 rs1463552642 |
137 | A>T | No |
ClinGen gnomAD |
|
|
rs1419372956 CA363726736 |
138 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363726728 rs1163401313 |
139 | K>T | No |
ClinGen gnomAD |
|
|
rs78564908 CA3765701 |
142 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs151017071 CA3765700 |
143 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363726697 rs1373253370 |
144 | T>S | No |
ClinGen gnomAD |
|
|
CA3765698 rs756493367 COSM323560 |
145 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3765681 rs779713831 |
146 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3765680 rs2233642 |
148 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3765679 rs750022965 |
151 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1435056911 CA363726626 |
152 | P>L | No |
ClinGen gnomAD |
|
|
rs757560677 CA3765677 |
153 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765678 rs781665049 |
153 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 155 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581996761 CA363726601 |
156 | Q>R | No |
ClinGen Ensembl |
|
|
CA363726597 rs1158364394 |
157 | K>Q | No |
ClinGen gnomAD |
|
|
CA363726553 rs1427785657 |
163 | E>Q | No |
ClinGen gnomAD |
|
|
CA3765673 rs752860837 |
164 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363726541 rs1478020549 |
164 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1488423113 CA363726544 |
164 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3765671 rs201119153 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363726522 rs535090810 |
167 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144452224 CA3765666 |
169 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144260993 CA3765665 |
169 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3765667 rs144452224 |
169 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539362144 CA137212297 |
170 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539362144 CA363726511 |
170 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539362144 CA3765664 |
170 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745604670 CA3765662 |
171 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561976901 CA363726506 |
171 | M>V | No |
ClinGen Ensembl |
|
|
CA137212282 rs867815111 |
172 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 174 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223174139 CA363726451 |
179 | A>S | No |
ClinGen TOPMed |
|
|
rs367842416 CA3765658 |
179 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753240911 CA3765656 |
180 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1172857387 CA363726427 |
182 | E>D | No |
ClinGen gnomAD |
|
|
rs375170855 CA137212228 |
182 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs199810913 CA3765653 |
185 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765652 rs766462365 |
185 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296362822 CA363726408 |
186 | M>V | No |
ClinGen gnomAD |
|
|
rs1209227466 CA363726395 |
187 | S>L | No |
ClinGen gnomAD |
|
|
rs138933709 CA3765649 |
189 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765648 rs762936949 |
190 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765647 rs775404376 |
190 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363726379 rs762936949 |
190 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363726371 rs1434678033 |
191 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3765646 rs7751270 |
192 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745312927 CA363726362 |
192 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs745312927 CA363726363 |
192 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs745312927 CA3765645 |
192 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs776371276 CA3765644 |
194 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746647174 CA3765642 |
194 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3765643 rs746647174 |
194 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765641 rs778337360 |
195 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758828320 CA3765640 |
196 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA363726325 rs1168479969 |
199 | G>E | No |
ClinGen gnomAD |
|
|
CA363726309 rs1181024149 |
202 | L>M | No |
ClinGen gnomAD |
|
|
rs372174290 CA363726298 |
203 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765637 rs770979391 |
204 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766452791 CA3765635 |
206 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA363726282 rs1264913013 |
206 | L>V | No |
ClinGen gnomAD |
|
|
CA3765634 rs756339544 |
207 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA363726248 rs750631701 |
211 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs750631701 CA3765633 |
211 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs962710942 CA137210932 |
212 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363726217 rs1342565230 |
214 | W>* | No |
ClinGen gnomAD |
|
|
CA363726195 rs1299037113 |
216 | K>N | No |
ClinGen gnomAD |
|
|
CA363726185 rs201096048 |
218 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3765610 rs201096048 |
218 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs548761944 CA3765611 |
218 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363726172 rs1466469556 |
220 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA363726170 rs1377026053 |
221 | P>T | No |
ClinGen gnomAD |
|
|
CA3765608 rs776623142 |
222 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363726161 rs1423828580 |
222 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363726156 rs1444988222 |
223 | A>E | No |
ClinGen gnomAD |
|
|
CA363726158 rs1192459400 |
223 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363726160 rs1192459400 |
223 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA363726157 rs1444988222 |
223 | A>V | No |
ClinGen gnomAD |
|
|
rs1366283973 CA363726153 |
224 | I>V | No |
ClinGen TOPMed |
|
|
CA137210863 rs370143432 |
225 | H>N | No |
ClinGen ESP TOPMed |
|
|
CA3765606 rs377061561 |
225 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3765604 rs771810181 |
227 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221691868 CA363726130 |
227 | C>Y | No |
ClinGen gnomAD |
|
|
rs1182182140 CA363726110 |
228 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200344679 CA3765573 COSM36760 |
229 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs868469601 CA137210678 |
231 | S>I | No |
ClinGen Ensembl |
|
|
rs1458603450 CA363726092 |
231 | S>R | No |
ClinGen TOPMed |
|
|
rs1292185452 CA363726068 |
234 | S>R | No |
ClinGen gnomAD |
|
|
CA3765570 rs767204522 |
237 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs761341902 CA3765569 |
237 | D>E | No |
ClinGen ExAC |
|
|
CA363726051 rs1359048841 |
237 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA363726049 rs1359048841 |
237 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1242082488 CA363726040 |
238 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1242082488 CA363726042 |
238 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1016959337 CA363726039 |
238 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA137210638 rs112635342 |
239 | E>K | No |
ClinGen Ensembl |
|
|
CA363726037 rs112635342 |
239 | E>Q | No |
ClinGen Ensembl |
|
|
CA363726017 rs1294579085 |
241 | D>E | No |
ClinGen TOPMed |
|
|
CA3765568 rs751186442 |
242 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765564 rs180755488 |
245 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3765565 rs180755488 |
245 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763755939 CA3765566 |
245 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3765562 rs541614805 |
246 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 247 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3765561 rs777053477 |
248 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581994995 CA363725966 |
250 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 251 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 252 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773335334 CA3765558 |
255 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA363725910 rs1158479959 |
258 | L>M | No |
ClinGen gnomAD |
|
|
CA3765556 rs200970692 |
260 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370073780 CA3765553 |
267 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3765552 rs781219802 |
267 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1581994924 CA363725821 |
271 | W>G | No |
ClinGen Ensembl |
|
|
rs751042906 CA3765550 |
273 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347099033 CA363725800 |
274 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 275 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3765549 rs199698960 |
276 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA363725763 rs1403998112 |
277 | G>D | No |
ClinGen gnomAD |
|
|
rs559509961 CA3765528 |
278 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755364795 CA3765527 |
283 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA363725704 rs1377171237 |
286 | Q>K | No |
ClinGen TOPMed |
|
|
rs1479520667 CA363725700 |
286 | Q>R | No |
ClinGen TOPMed |
|
|
CA363725695 rs1161446446 |
287 | V>L | No |
ClinGen TOPMed |
|
|
CA3765525 rs765350354 |
289 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM483964 CA3765526 rs148079586 |
289 | R>W | kidney Variant assessed as Somatic; 9.258e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs761302034 CA3765524 |
293 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137209783 rs1005990214 |
294 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1459954074 CA363725653 |
294 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1459954074 CA363725651 |
294 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | K>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886262844 CA137209782 |
295 | K>N | No |
ClinGen gnomAD |
|
|
rs1198756739 CA363725640 |
296 | N>T | No |
ClinGen gnomAD |
|
|
CA3765523 rs374579377 |
297 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270455335 CA363725633 |
297 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs145642998 CA3765521 COSM1227304 |
299 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774761460 CA3765520 |
301 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA137209748 rs998974735 |
303 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3765517 COSM451333 rs776586725 |
310 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA363725548 rs776586725 |
310 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770570572 CA363725520 |
313 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1385596545 CA363725513 |
314 | K>N | No |
ClinGen gnomAD |
|
|
rs777562610 CA3765514 |
319 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765515 rs140605373 |
319 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137209693 rs947333993 |
323 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3765512 rs747628808 |
325 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1265253055 CA363725442 |
325 | Q>R | No |
ClinGen TOPMed |
|
|
rs1223309930 CA363725437 |
326 | R>C | No |
ClinGen gnomAD |
|
|
CA3765511 rs761867963 |
326 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761867963 CA137209664 |
326 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3765510 rs754648678 COSM315546 |
328 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA363725407 rs1472398688 |
331 | F>L | No |
ClinGen TOPMed |
|
|
rs780472200 CA363725399 |
332 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780472200 CA3765508 |
332 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs750996634 CA3765506 |
333 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs767887000 CA3765505 |
333 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3765504 rs762022604 |
336 | I>S | No |
ClinGen ExAC gnomAD |
No associated diseases with O95238
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| sequence-specific DNA binding | Binding to 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. |
| 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. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| epithelial cell fate commitment | The process in which the developmental fate of a cell becomes restricted such that it will develop into an epithelial cell. |
| glandular epithelial cell development | The process whose specific outcome is the progression of a glandular epithelial cell over time, from its formation to the mature structure. A glandular epithelial cell is a columnar/cuboidal epithelial cell is a cell found in a two dimensional sheet with a free surface exposed to the lumen of a gland. |
| intestinal epithelial cell development | The process whose specific outcome is the progression of a columnar/cuboidal epithelial cell of the intestine over time, from its formation to the mature structure. |
| lung goblet cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a lung goblet cell. A goblet cell is a cell of the epithelial lining that produces and secretes mucins. |
| negative regulation of cell fate commitment | Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. |
| 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. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of cell fate commitment | Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. |
| 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. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P29775 | Ets98B | DNA-binding protein D-ETS-4 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
| P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
| P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
| Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
| P32519 | ELF1 | ETS-related transcription factor Elf-1 | Homo sapiens (Human) | PR |
| Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
| Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
| P50548 | ERF | ETS domain-containing transcription factor ERF | Homo sapiens (Human) | PR |
| P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
| P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
| P43268 | ETV4 | ETS translocation variant 4 | Homo sapiens (Human) | EV |
| P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
| P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
| P41970 | ELK3 | ETS domain-containing protein Elk-3 | Homo sapiens (Human) | SS |
| P28324 | ELK4 | ETS domain-containing protein Elk-4 | Homo sapiens (Human) | EV |
| P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
| P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
| P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
| Q9WTP3 | Spdef | SAM pointed domain-containing Ets transcription factor | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSASPGLSS | VSPSHLLLPP | DTVSRTGLEK | AAAGAVGLER | RDWSPSPPAT | PEQGLSAFYL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYFDMLYPED | SSWAAKAPGA | SSREEPPEEP | EQCPVIDSQA | PAGSLDLVPG | GLTLEEHSLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVQSMVVGEV | LKDIETACKL | LNITADPMDW | SPSNVQKWLL | WTEHQYRLPP | MGKAFQELAG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KELCAMSEEQ | FRQRSPLGGD | VLHAHLDIWK | SAAWMKERTS | PGAIHYCAST | SEESWTDSEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DSSCSGQPIH | LWQFLKELLL | KPHSYGRFIR | WLNKEKGIFK | IEDSAQVARL | WGIRKNRPAM |
| 310 | 320 | 330 | |||
| NYDKLSRSIR | QYYKKGIIRK | PDISQRLVYQ | FVHPI |