Evidence Details for ERBB4
Basic Information Top
| Gene Symbol: | ERBB4 ( HER4,MGC138404,p180erbB4 ) |
|---|---|
| Gene Full Name: | v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) |
| Band: | 2q34 |
| Quick Links | Entrez ID:2066; OMIM: 600543; Uniprot ID:ERBB4_HUMAN; ENSEMBL ID: ENSG00000178568; HGNC ID: 3432 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ERBB4|2066|nucleotide
ATGAAGCCGGCGACAGGACTTTGGGTCTGGGTGAGCCTTCTCGTGGCGGCGGGGACCGTCCAGCCCAGCGATTCTCAGTCAGTGTGTGCAGGAACGGAGAATAAA
CTGAGCTCTCTCTCTGACCTGGAACAGCAGTACCGAGCCTTGCGCAAGTACTATGAAAACTGTGAGGTTGTCATGGGCAACCTGGAGATAACCAGCATTGAGCAC
AACCGGGACCTCTCCTTCCTGCGGTCTGTTCGAGAAGTCACAGGCTACGTGTTAGTGGCTCTTAATCAGTTTCGTTACCTGCCTCTGGAGAATTTACGCATTATT
CGTGGGACAAAACTTTATGAGGATCGATATGCCTTGGCAATATTTTTAAACTACAGAAAAGATGGAAACTTTGGACTTCAAGAACTTGGATTAAAGAACTTGACA
GAAATCCTAAATGGTGGAGTCTATGTAGACCAGAACAAATTCCTTTGTTATGCAGACACCATTCATTGGCAAGATATTGTTCGGAACCCATGGCCTTCCAACTTG
ACTCTTGTGTCAACAAATGGTAGTTCAGGATGTGGACGTTGCCATAAGTCCTGTACTGGCCGTTGCTGGGGACCCACAGAAAATCATTGCCAGACTTTGACAAGG
ACGGTGTGTGCAGAACAATGTGACGGCAGATGCTACGGACCTTACGTCAGTGACTGCTGCCATCGAGAATGTGCTGGAGGCTGCTCAGGACCTAAGGACACAGAC
TGCTTTGCCTGCATGAATTTCAATGACAGTGGAGCATGTGTTACTCAGTGTCCCCAAACCTTTGTCTACAATCCAACCACCTTTCAACTGGAGCACAATTTCAAT
GCAAAGTACACATATGGAGCATTCTGTGTCAAGAAATGTCCACATAACTTTGTGGTAGATTCCAGTTCTTGTGTGCGTGCCTGCCCTAGTTCCAAGATGGAAGTA
GAAGAAAATGGGATTAAAATGTGTAAACCTTGCACTGACATTTGCCCAAAAGCTTGTGATGGCATTGGCACAGGATCATTGATGTCAGCTCAGACTGTGGATTCC
AGTAACATTGACAAATTCATAAACTGTACCAAGATCAATGGGAATTTGATCTTTCTAGTCACTGGTATTCATGGGGACCCTTACAATGCAATTGAAGCCATAGAC
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ATGAAGCCGGCGACAGGACTTTGGGTCTGGGTGAGCCTTCTCGTGGCGGCGGGGACCGTCCAGCCCAGCGATTCTCAGTCAGTGTGTGCAGGAACGGAGAATAAA
CTGAGCTCTCTCTCTGACCTGGAACAGCAGTACCGAGCCTTGCGCAAGTACTATGAAAACTGTGAGGTTGTCATGGGCAACCTGGAGATAACCAGCATTGAGCAC
AACCGGGACCTCTCCTTCCTGCGGTCTGTTCGAGAAGTCACAGGCTACGTGTTAGTGGCTCTTAATCAGTTTCGTTACCTGCCTCTGGAGAATTTACGCATTATT
CGTGGGACAAAACTTTATGAGGATCGATATGCCTTGGCAATATTTTTAAACTACAGAAAAGATGGAAACTTTGGACTTCAAGAACTTGGATTAAAGAACTTGACA
GAAATCCTAAATGGTGGAGTCTATGTAGACCAGAACAAATTCCTTTGTTATGCAGACACCATTCATTGGCAAGATATTGTTCGGAACCCATGGCCTTCCAACTTG
ACTCTTGTGTCAACAAATGGTAGTTCAGGATGTGGACGTTGCCATAAGTCCTGTACTGGCCGTTGCTGGGGACCCACAGAAAATCATTGCCAGACTTTGACAAGG
ACGGTGTGTGCAGAACAATGTGACGGCAGATGCTACGGACCTTACGTCAGTGACTGCTGCCATCGAGAATGTGCTGGAGGCTGCTCAGGACCTAAGGACACAGAC
TGCTTTGCCTGCATGAATTTCAATGACAGTGGAGCATGTGTTACTCAGTGTCCCCAAACCTTTGTCTACAATCCAACCACCTTTCAACTGGAGCACAATTTCAAT
GCAAAGTACACATATGGAGCATTCTGTGTCAAGAAATGTCCACATAACTTTGTGGTAGATTCCAGTTCTTGTGTGCGTGCCTGCCCTAGTTCCAAGATGGAAGTA
GAAGAAAATGGGATTAAAATGTGTAAACCTTGCACTGACATTTGCCCAAAAGCTTGTGATGGCATTGGCACAGGATCATTGATGTCAGCTCAGACTGTGGATTCC
AGTAACATTGACAAATTCATAAACTGTACCAAGATCAATGGGAATTTGATCTTTCTAGTCACTGGTATTCATGGGGACCCTTACAATGCAATTGAAGCCATAGAC
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>ERBB4|2066|protein
MKPATGLWVWVSLLVAAGTVQPSDSQSVCAGTENKLSSLSDLEQQYRALRKYYENCEVVMGNLEITSIEHNRDLSFLRSVREVTGYVLVALNQFRYLPLENLRII
RGTKLYEDRYALAIFLNYRKDGNFGLQELGLKNLTEILNGGVYVDQNKFLCYADTIHWQDIVRNPWPSNLTLVSTNGSSGCGRCHKSCTGRCWGPTENHCQTLTR
TVCAEQCDGRCYGPYVSDCCHRECAGGCSGPKDTDCFACMNFNDSGACVTQCPQTFVYNPTTFQLEHNFNAKYTYGAFCVKKCPHNFVVDSSSCVRACPSSKMEV
EENGIKMCKPCTDICPKACDGIGTGSLMSAQTVDSSNIDKFINCTKINGNLIFLVTGIHGDPYNAIEAIDPEKLNVFRTVREITGFLNIQSWPPNMTDFSVFSNL
VTIGGRVLYSGLSLLILKQQGITSLQFQSLKEISAGNIYITDNSNLCYYHTINWTTLFSTINQRIVIRDNRKAENCTAEGMVCNHLCSSDGCWGPGPDQCLSCRR
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MKPATGLWVWVSLLVAAGTVQPSDSQSVCAGTENKLSSLSDLEQQYRALRKYYENCEVVMGNLEITSIEHNRDLSFLRSVREVTGYVLVALNQFRYLPLENLRII
RGTKLYEDRYALAIFLNYRKDGNFGLQELGLKNLTEILNGGVYVDQNKFLCYADTIHWQDIVRNPWPSNLTLVSTNGSSGCGRCHKSCTGRCWGPTENHCQTLTR
TVCAEQCDGRCYGPYVSDCCHRECAGGCSGPKDTDCFACMNFNDSGACVTQCPQTFVYNPTTFQLEHNFNAKYTYGAFCVKKCPHNFVVDSSSCVRACPSSKMEV
EENGIKMCKPCTDICPKACDGIGTGSLMSAQTVDSSNIDKFINCTKINGNLIFLVTGIHGDPYNAIEAIDPEKLNVFRTVREITGFLNIQSWPPNMTDFSVFSNL
VTIGGRVLYSGLSLLILKQQGITSLQFQSLKEISAGNIYITDNSNLCYYHTINWTTLFSTINQRIVIRDNRKAENCTAEGMVCNHLCSSDGCWGPGPDQCLSCRR
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 2 (3) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 8 (9) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Anney, 2010_3 | Discovery | Illumina Human 1M-single Infinium BeadChip | 897 | 909 (-) |  | | ASD | - - |
- - | ||
| Anney, 2010_4 | Replication | Illumina Human 1M-single Infinium BeadChip | 476 | 702 (-) | | | ASD | - - |
- - | ||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_1 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 1301 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pescucci, 2003 | - | STS mapping |  | | autism | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| Nilsson D, 2017 | 8 | - | 17 | Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.