Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Prostatic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29610475 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Prostatic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29610475 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8020980 | PMID:8889548 | PMID:12007404 | PMID:12477932 | PMID:14754893 | PMID:15489334 | PMID:16710414 | PMID:17525531 | PMID:18025162 | PMID:18029348 | PMID:18951430 | PMID:18976975 |
PMID:19274049 | PMID:21150319 | PMID:21244100 | PMID:21832049 | PMID:21873635 | PMID:23329352 | PMID:23455924 | PMID:23667531 | PMID:24999758 | PMID:26186194 | PMID:26673895 | PMID:28027390 |
PMID:28473536 | PMID:28514442 | PMID:29507755 | PMID:29877893 | PMID:31980649 | PMID:33640491 | PMID:33961781 | PMID:34299191 | PMID:35140242 | PMID:35198878 | PMID:35819319 | PMID:36543959 |
ETV3 (Homo sapiens - human) |
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Etv3 (Mus musculus - house mouse) |
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Etv3 (Rattus norvegicus - Norway rat) |
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LOC100993377 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ETV3 (Canis lupus familiaris - dog) |
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Etv3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ETV3 (Sus scrofa - pig) |
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ETV3 (Chlorocebus sabaeus - green monkey) |
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Etv3 (Heterocephalus glaber - naked mole-rat) |
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Variants in ETV3
22 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] | Chr1:156664483..160727411 [GRCh38] Chr1:156634275..160697201 [GRCh37] Chr1:154900899..158963825 [NCBI36] Chr1:1q23.1-23.3 |
pathogenic |
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 | copy number gain | See cases [RCV000139902] | Chr1:154566501..157624084 [GRCh38] Chr1:154538977..157593874 [GRCh37] Chr1:152805601..155860498 [NCBI36] Chr1:1q21.3-23.1 |
pathogenic |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
NM_001145312.3(ETV3):c.658A>T (p.Ile220Phe) | single nucleotide variant | Inborn genetic diseases [RCV003244643] | Chr1:157125722 [GRCh38] Chr1:157095514 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_001145312.3(ETV3):c.962G>A (p.Arg321His) | single nucleotide variant | Inborn genetic diseases [RCV003291221] | Chr1:157125418 [GRCh38] Chr1:157095210 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 | copy number loss | not provided [RCV000684658] | Chr1:155636337..158024499 [GRCh37] Chr1:1q22-23.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_001145312.3(ETV3):c.619G>C (p.Asp207His) | single nucleotide variant | Inborn genetic diseases [RCV003261014] | Chr1:157125761 [GRCh38] Chr1:157095553 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.437C>T (p.Ala146Val) | single nucleotide variant | Inborn genetic diseases [RCV002905642] | Chr1:157125943 [GRCh38] Chr1:157095735 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.745G>T (p.Val249Phe) | single nucleotide variant | Inborn genetic diseases [RCV002776642] | Chr1:157125635 [GRCh38] Chr1:157095427 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.502C>T (p.Arg168Trp) | single nucleotide variant | Inborn genetic diseases [RCV002849046] | Chr1:157125878 [GRCh38] Chr1:157095670 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.717G>A (p.Met239Ile) | single nucleotide variant | Inborn genetic diseases [RCV002977327] | Chr1:157125663 [GRCh38] Chr1:157095455 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.1232C>G (p.Pro411Arg) | single nucleotide variant | Inborn genetic diseases [RCV002761966] | Chr1:157125148 [GRCh38] Chr1:157094940 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.232C>T (p.Arg78Cys) | single nucleotide variant | Inborn genetic diseases [RCV002980251] | Chr1:157135523 [GRCh38] Chr1:157105315 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.815C>T (p.Thr272Ile) | single nucleotide variant | Inborn genetic diseases [RCV002661772] | Chr1:157125565 [GRCh38] Chr1:157095357 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.659T>C (p.Ile220Thr) | single nucleotide variant | Inborn genetic diseases [RCV002982004] | Chr1:157125721 [GRCh38] Chr1:157095513 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.1177C>T (p.Leu393Phe) | single nucleotide variant | Inborn genetic diseases [RCV002745078] | Chr1:157125203 [GRCh38] Chr1:157094995 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.860G>A (p.Ser287Asn) | single nucleotide variant | Inborn genetic diseases [RCV002874503] | Chr1:157125520 [GRCh38] Chr1:157095312 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.817A>G (p.Ile273Val) | single nucleotide variant | Inborn genetic diseases [RCV002853666] | Chr1:157125563 [GRCh38] Chr1:157095355 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.607C>T (p.Arg203Cys) | single nucleotide variant | Inborn genetic diseases [RCV003008783] | Chr1:157125773 [GRCh38] Chr1:157095565 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.1439G>T (p.Trp480Leu) | single nucleotide variant | Inborn genetic diseases [RCV002940132] | Chr1:157124941 [GRCh38] Chr1:157094733 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.635G>A (p.Arg212Lys) | single nucleotide variant | Inborn genetic diseases [RCV003174044] | Chr1:157125745 [GRCh38] Chr1:157095537 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.82T>G (p.Ser28Ala) | single nucleotide variant | Inborn genetic diseases [RCV003174164] | Chr1:157135673 [GRCh38] Chr1:157105465 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_001145312.3(ETV3):c.764G>A (p.Arg255His) | single nucleotide variant | Inborn genetic diseases [RCV003208334] | Chr1:157125616 [GRCh38] Chr1:157095408 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 | copy number gain | Chromosome 1q21.1 duplication syndrome [RCV003329522] | Chr1:142535935..157648813 [GRCh37] Chr1:1q12-23.1 |
pathogenic |
NM_001145312.3(ETV3):c.1178T>C (p.Leu393Pro) | single nucleotide variant | Inborn genetic diseases [RCV003370177] | Chr1:157125202 [GRCh38] Chr1:157094994 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1q23.1(chr1:156996766-157144209)x1 | copy number loss | not provided [RCV003483922] | Chr1:156996766..157144209 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 | copy number gain | not specified [RCV003986717] | Chr1:144368497..158992086 [GRCh37] Chr1:1q21.1-23.1 |
pathogenic |
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 | copy number gain | not specified [RCV003987261] | Chr1:146577511..157155587 [GRCh37] Chr1:1q21.1-23.1 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D1S2332E |
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ETV3_3364.2 |
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D1S3438 |
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RH17623 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 511 | 527 | 312 | 101 | 711 | 62 | 2341 | 143 | 418 | 155 | 957 | 947 | 53 | 617 | 1123 | 2 | ||
Low | 1928 | 2449 | 1414 | 523 | 1226 | 403 | 2016 | 2053 | 3316 | 263 | 503 | 666 | 122 | 1 | 587 | 1665 | 4 | 2 |
Below cutoff | 15 | 14 | 1 | 1 |
RefSeq Transcripts | NM_001145312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_005240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006711210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054335093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF218540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK304789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK316274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL157713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU690105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L16464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000326786 ⟹ ENSP00000327316 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000368192 ⟹ ENSP00000357175 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000460850 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001145312 ⟹ NP_001138784 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_005240 ⟹ NP_005231 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006711210 ⟹ XP_006711273 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054335093 ⟹ XP_054191068 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001138784 | (Get FASTA) | NCBI Sequence Viewer |
NP_005231 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006711273 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054191068 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA60949 | (Get FASTA) | NCBI Sequence Viewer |
AAH22868 | (Get FASTA) | NCBI Sequence Viewer | |
AAK56846 | (Get FASTA) | NCBI Sequence Viewer | |
BAG65539 | (Get FASTA) | NCBI Sequence Viewer | |
BAH14645 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52888 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52889 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000327316 | ||
ENSP00000327316.4 | |||
ENSP00000357175 | |||
ENSP00000357175.4 | |||
GenBank Protein | P41162 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001138784 ⟸ NM_001145312 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8TAC8 (UniProtKB/Swiss-Prot), B4E3M7 (UniProtKB/Swiss-Prot), Q9BX30 (UniProtKB/Swiss-Prot), P41162 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_005231 ⟸ NM_005240 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P41162 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006711273 ⟸ XM_006711210 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8TAC8 (UniProtKB/Swiss-Prot), B4E3M7 (UniProtKB/Swiss-Prot), Q9BX30 (UniProtKB/Swiss-Prot), P41162 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000327316 ⟸ ENST00000326786 |
RefSeq Acc Id: | ENSP00000357175 ⟸ ENST00000368192 |
RefSeq Acc Id: | XP_054191068 ⟸ XM_054335093 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8TAC8 (UniProtKB/Swiss-Prot), P41162 (UniProtKB/Swiss-Prot), B4E3M7 (UniProtKB/Swiss-Prot), Q9BX30 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P41162-F1-model_v2 | AlphaFold | P41162 | 1-512 | view protein structure |
RGD ID: | 6785523 | ||||||||
Promoter ID: | HG_KWN:5599 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000082842, OTTHUMT00000082843, OTTHUMT00000099020 | ||||||||
Position: |
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RGD ID: | 6857652 | ||||||||
Promoter ID: | EPDNEW_H1991 | ||||||||
Type: | initiation region | ||||||||
Name: | ETV3_1 | ||||||||
Description: | ETS variant 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:3492 | AgrOrtholog |
COSMIC | ETV3 | COSMIC |
Ensembl Genes | ENSG00000117036 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000326786 | ENTREZGENE |
ENST00000326786.4 | UniProtKB/Swiss-Prot | |
ENST00000368192 | ENTREZGENE | |
ENST00000368192.9 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000117036 | GTEx |
HGNC ID | HGNC:3492 | ENTREZGENE |
Human Proteome Map | ETV3 | Human Proteome Map |
InterPro | Ets_dom | UniProtKB/Swiss-Prot |
ETS_fam | UniProtKB/Swiss-Prot | |
WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot | |
WH_DNA-bd_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:2117 | UniProtKB/Swiss-Prot |
NCBI Gene | 2117 | ENTREZGENE |
OMIM | 164873 | OMIM |
PANTHER | ETS TRANSLOCATION VARIANT 3 | UniProtKB/Swiss-Prot |
PTHR11849 | UniProtKB/Swiss-Prot | |
Pfam | Ets | UniProtKB/Swiss-Prot |
PharmGKB | PA27906 | PharmGKB |
PRINTS | ETSDOMAIN | UniProtKB/Swiss-Prot |
PROSITE | ETS_DOMAIN_1 | UniProtKB/Swiss-Prot |
ETS_DOMAIN_2 | UniProtKB/Swiss-Prot | |
ETS_DOMAIN_3 | UniProtKB/Swiss-Prot | |
SMART | ETS | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF46785 | UniProtKB/Swiss-Prot |
UniProt | B4E3M7 | ENTREZGENE |
ETV3_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q8TAC8 | ENTREZGENE | |
Q9BX30 | ENTREZGENE | |
UniProt Secondary | B4E3M7 | UniProtKB/Swiss-Prot |
Q8TAC8 | UniProtKB/Swiss-Prot | |
Q9BX30 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-09-12 | ETV3 | ETS variant transcription factor 3 | ETV3 | ETS variant 3 | Symbol and/or name change | 5135510 | APPROVED |
2016-02-29 | ETV3 | ETS variant 3 | ets variant 3 | Symbol and/or name change | 5135510 | APPROVED |