AutismKB 2.0

Evidence Details for E2F7


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Basic Information Top
Gene Symbol:E2F7 ( FLJ12981 )
Gene Full Name: E2F transcription factor 7
Band: 12q21.2
Quick LinksEntrez ID:144455; OMIM: 612046; Uniprot ID:E2F7_HUMAN; ENSEMBL ID: ENSG00000165891; HGNC ID: 23820
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>E2F7|144455|nucleotide
ATGGAGGTAAATTGTTTAACACTAAAAGACCTGATCAGCCCCAGGCAGCCCAGACTAGATTTTGCAGTTGAAGATGGGGAAAATGCACAAAAGGAAAATATATTT
GTTGATCGATCAAGGATGGCCCCGAAGACTCCAATAAAAAATGAACCAATTGATTTATCGAAGCAAAAAAAATTTACTCCAGAAAGAAATCCCATTACTCCAGTT
AAGTTTGTTGACAGACAGCAAGCGGAACCATGGACACCCACAGCTAACCTGAAGATGCTCATTAGTGCTGCCAGCCCAGATATAAGGGACCGGGAGAAGAAAAAG
GGACTATTCCGACCCATTGAAAACAAGGACGATGCATTTACAGATTCTCTACAGCTTGATGTTGTTGGGGACAGTGCTGTGGACGAATTTGAAAAGCAAAGGCCA
AGCAGAAAACAGAAAAGTTTAGGACTCCTGTGCCAGAAGTTTCTAGCTCGCTATCCAAGTTATCCCTTGTCAACTGAGAAAACTACCATCTCCCTAGATGAAGTT
GCTGTCAGTCTTGGTGTGGAAAGGAGACGCATCTATGACATTGTAAATGTGCTGGAGTCGCTGCATCTGGTCAGCCGGGTGGCTAAGAATCAGTATGGCTGGCAT
GGACGGCACAGCCTGCCAAAAACCCTGAGGAACCTCCAGAGACTAGGAGAGGAGCAGAAATATGAAGAGCAAATGGCCTACCTCCAACAGAAAGAGCTGGACCTG
ATAGATTATAAATTTGGAGAACGTAAAAAAGATGGTGATCCAGATTCCCAGGAACAACAGTTACTGGATTTCTCTGAACCCGACTGTCCCTCTTCATCTGCAAAC
AGTAGAAAAGACAAGTCTCTGAGAATTATGAGCCAGAAGTTTGTCATGCTGTTCCTCGTCTCCAAAACCAAGATTGTCACTCTGGATGTGGCTGCCAAAATACTG
ATAGAAGAAAGCCAAGATGCCCCAGACCATAGTAAATTTAAAACAAAGGTACGACGCCTCTATGACATAGCCAATGTTCTGACCAGCTTGGCTCTGATAAAGAAA
GTGCATGTAACAGAAGAGCGAGGTCGTAAACCAGCCTTCAAGTGGATCGGGCCTGTGGACTTCAGCTCAAGTGATGAAGAACTGGTGGATGTTTCTGCATCTGTC
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>E2F7|144455|protein
MEVNCLTLKDLISPRQPRLDFAVEDGENAQKENIFVDRSRMAPKTPIKNEPIDLSKQKKFTPERNPITPVKFVDRQQAEPWTPTANLKMLISAASPDIRDREKKK
GLFRPIENKDDAFTDSLQLDVVGDSAVDEFEKQRPSRKQKSLGLLCQKFLARYPSYPLSTEKTTISLDEVAVSLGVERRRIYDIVNVLESLHLVSRVAKNQYGWH
GRHSLPKTLRNLQRLGEEQKYEEQMAYLQQKELDLIDYKFGERKKDGDPDSQEQQLLDFSEPDCPSSSANSRKDKSLRIMSQKFVMLFLVSKTKIVTLDVAAKIL
IEESQDAPDHSKFKTKVRRLYDIANVLTSLALIKKVHVTEERGRKPAFKWIGPVDFSSSDEELVDVSASVLPELKRETYGQIQVCAKQKLARHGSFNTVQASERI
QRKVNSEPSSPYREEQGSGGYSLEIGSLAAVYRQKIEDNSQGKAFASKRVVPPSSSLDPVAPFPVLSVDPEYCVNPLAHPVFSVAQTDLQAFSMQNGLNGQVDVS
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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 (1) 0 (1) 0 (0) 0 (0) 2 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top