Evidence Details for E2F4
Basic Information Top
| Gene Symbol: | E2F4 ( E2F-4 ) |
|---|---|
| Gene Full Name: | E2F transcription factor 4, p107/p130-binding |
| Band: | 16q22.1 |
| Quick Links | Entrez ID:1874; OMIM: 600659; Uniprot ID:E2F4_HUMAN; ENSEMBL ID: ENSG00000205250; HGNC ID: 3118 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>E2F4|1874|nucleotide
ATGGCGGAGGCCGGGCCACAGGCGCCGCCGCCCCCGGGCACTCCAAGCCGGCACGAAAAGAGCCTGGGACTGCTCACCACCAAGTTCGTGTCCCTTCTGCAGGAG
GCCAAGGACGGCGTGCTTGACCTCAAGCTGGCAGCTGACACCCTAGCTGTACGCCAGAAGCGGCGGATTTACGACATTACCAATGTTTTGGAAGGTATCGGGCTA
ATCGAGAAAAAGTCCAAGAACAGCATCCAGTGGAAGGGTGTGGGGCCTGGCTGCAATACCCGGGAGATTGCTGACAAACTGATTGAGCTCAAGGCAGAGATCGAG
GAGCTGCAGCAGCGGGAGCAAGAACTAGACCAGCACAAGGTGTGGGTGCAGCAGAGCATCCGGAACGTCACAGAGGACGTGCAGAACAGCTGTTTGGCCTACGTC
ACTCATGAGGACATCTGCAGATGCTTTGCTGGAGATACCCTCTTGGCCATCCGGGCCCCATCAGGCACCAGCCTGGAGGTGCCCATCCCAGAGGGTCTCAATGGG
CAGAAGAAGTACCAGATTCACCTGAAGAGTGTGAGTGGTCCCATTGAGGTTCTGCTGGTGAACAAGGAGGCATGGAGCTCACCCCCTGTGGCTGTGCCTGTGCCA
CCACCTGAAGATTTGCTCCAGAGCCCATCTGCTGTTTCTACACCTCCACCTCTGCCCAAGCCTGCCCTAGCCCAGTCCCAGGAAGCCTCACGTCCAAATAGTCCT
CAGCTCACTCCCACTGCTGTCCCTGGCAGTGCAGAAGTCCAGGGAATGGCTGGCCCAGCAGCTGAGATCACAGTGAGTGGCGGCCCTGGGACTGATAGCAAGGAC
AGTGGTGAGCTCAGTTCACTCCCACTGGGCCCAACAACACTGGACACCCGGCCACTGCAGTCTTCTGCCCTGCTGGACAGCAGCAGCAGCAGCAGCAGCAGCAGC
AGCAGCAGCAGCAACAGTAACAGCAGCAGTTCGTCCGGACCCAACCCTTCTACCTCCTTTGAGCCCATCAAGGCAGACCCCACAGGTGTTTTGGAACTCCCCAAA
GAGCTGTCAGAAATCTTTGATCCCACACGAGAGTGCATGAGCTCGGAGCTGCTGGAGGAGTTGATGTCCTCAGAAGTGTTTGCCCCTCTGCTTCGTCTTTCTCCA
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ATGGCGGAGGCCGGGCCACAGGCGCCGCCGCCCCCGGGCACTCCAAGCCGGCACGAAAAGAGCCTGGGACTGCTCACCACCAAGTTCGTGTCCCTTCTGCAGGAG
GCCAAGGACGGCGTGCTTGACCTCAAGCTGGCAGCTGACACCCTAGCTGTACGCCAGAAGCGGCGGATTTACGACATTACCAATGTTTTGGAAGGTATCGGGCTA
ATCGAGAAAAAGTCCAAGAACAGCATCCAGTGGAAGGGTGTGGGGCCTGGCTGCAATACCCGGGAGATTGCTGACAAACTGATTGAGCTCAAGGCAGAGATCGAG
GAGCTGCAGCAGCGGGAGCAAGAACTAGACCAGCACAAGGTGTGGGTGCAGCAGAGCATCCGGAACGTCACAGAGGACGTGCAGAACAGCTGTTTGGCCTACGTC
ACTCATGAGGACATCTGCAGATGCTTTGCTGGAGATACCCTCTTGGCCATCCGGGCCCCATCAGGCACCAGCCTGGAGGTGCCCATCCCAGAGGGTCTCAATGGG
CAGAAGAAGTACCAGATTCACCTGAAGAGTGTGAGTGGTCCCATTGAGGTTCTGCTGGTGAACAAGGAGGCATGGAGCTCACCCCCTGTGGCTGTGCCTGTGCCA
CCACCTGAAGATTTGCTCCAGAGCCCATCTGCTGTTTCTACACCTCCACCTCTGCCCAAGCCTGCCCTAGCCCAGTCCCAGGAAGCCTCACGTCCAAATAGTCCT
CAGCTCACTCCCACTGCTGTCCCTGGCAGTGCAGAAGTCCAGGGAATGGCTGGCCCAGCAGCTGAGATCACAGTGAGTGGCGGCCCTGGGACTGATAGCAAGGAC
AGTGGTGAGCTCAGTTCACTCCCACTGGGCCCAACAACACTGGACACCCGGCCACTGCAGTCTTCTGCCCTGCTGGACAGCAGCAGCAGCAGCAGCAGCAGCAGC
AGCAGCAGCAGCAACAGTAACAGCAGCAGTTCGTCCGGACCCAACCCTTCTACCTCCTTTGAGCCCATCAAGGCAGACCCCACAGGTGTTTTGGAACTCCCCAAA
GAGCTGTCAGAAATCTTTGATCCCACACGAGAGTGCATGAGCTCGGAGCTGCTGGAGGAGTTGATGTCCTCAGAAGTGTTTGCCCCTCTGCTTCGTCTTTCTCCA
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>E2F4|1874|protein
MAEAGPQAPPPPGTPSRHEKSLGLLTTKFVSLLQEAKDGVLDLKLAADTLAVRQKRRIYDITNVLEGIGLIEKKSKNSIQWKGVGPGCNTREIADKLIELKAEIE
ELQQREQELDQHKVWVQQSIRNVTEDVQNSCLAYVTHEDICRCFAGDTLLAIRAPSGTSLEVPIPEGLNGQKKYQIHLKSVSGPIEVLLVNKEAWSSPPVAVPVP
PPEDLLQSPSAVSTPPPLPKPALAQSQEASRPNSPQLTPTAVPGSAEVQGMAGPAAEITVSGGPGTDSKDSGELSSLPLGPTTLDTRPLQSSALLDSSSSSSSSS
SSSSNSNSSSSSGPNPSTSFEPIKADPTGVLELPKELSEIFDPTRECMSSELLEELMSSEVFAPLLRLSPPPGDHDYIYNLDESEGVCDLFDVPVLNL
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MAEAGPQAPPPPGTPSRHEKSLGLLTTKFVSLLQEAKDGVLDLKLAADTLAVRQKRRIYDITNVLEGIGLIEKKSKNSIQWKGVGPGCNTREIADKLIELKAEIE
ELQQREQELDQHKVWVQQSIRNVTEDVQNSCLAYVTHEDICRCFAGDTLLAIRAPSGTSLEVPIPEGLNGQKKYQIHLKSVSGPIEVLLVNKEAWSSPPVAVPVP
PPEDLLQSPSAVSTPPPLPKPALAQSQEASRPNSPQLTPTAVPGSAEVQGMAGPAAEITVSGGPGTDSKDSGELSSLPLGPTTLDTRPLQSSALLDSSSSSSSSS
SSSSNSNSSSSSGPNPSTSFEPIKADPTGVLELPKELSEIFDPTRECMSSELLEELMSSEVFAPLLRLSPPPGDHDYIYNLDESEGVCDLFDVPVLNL
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Evidence summary Top
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| 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 | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
| Bucan, 2009 | USA | SNP microarray | ![]() | ![]() | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top



