AutismKB 2.0

Evidence Details for ELF1


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Basic Information Top
Gene Symbol:ELF1 ( - )
Gene Full Name: E74-like factor 1 (ets domain transcription factor)
Band: 13q14.11
Quick LinksEntrez ID:1997; OMIM: 189973; Uniprot ID:ELF1_HUMAN; ENSEMBL ID: ENSG00000120690; HGNC ID: 3316
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELF1|1997|nucleotide
ATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCTAGTAACGTCATGGAGGATGAACGACAGCTTGGTGATCCAGCTATTTTTCCTGCCGTAATT
GTGGAACATGTTCCTGGTGCTGATATTCTCAATAGTTATGCCGGTCTAGCCTGTGTGGAAGAGCCCAATGACATGATTACTGAGAGTTCACTGGATGTTGCTGAA
GAAGAAATCATAGACGATGATGATGATGACATCACCCTTACAGTTGAAGCTTCTTGTCATGACGGGGATGAAACAATTGAAACTATTGAGGCTGCTGAGGCACTC
CTCAATATGGATTCCCCTGGCCCTATGCTGGATGAAAAACGAATAAATGGGATTCCTGAAGTGATGGAAACACAGCAGGTGCAAGAAAAATATGCAGACTCACCG
GGAGCCTCATCACCAGAACAGCCTAAGAGGAAAAAAGGAAGAAAAACTAAACCACCACGACCAGATTCCCCAGCCACTACGCCAAATATATCTGTGAAGAAGAAA
AACAAAGATGGAAAGGGAAACACAATTTATCTTTGGGAGTTTTTACTGGCACTGCTCCAGGACAAGGCTACTTGTCCTAAATACATCAAGTGGACCCAGCGAGAG
AAAGGCATTTTTAAATTGGTGGATTCTAAAGCAGTGTCCAGGTTGTGGGGGAAGCACAAAAACAAACCTGATATGAATTATGAGACCATGGGAAGAGCACTCAGG
TACTATTACCAAAGGGGTATTCTGGCAAAAGTGGAAGGTCAGCGCTTGGTGTATCAGTTTAAAGAAATGCCAAAAGATCTTATATATATAAATGATGAGGATCCA
AGTTCCAGCATAGAGTCTTCAGATCCATCGCTATCTTCATCAGCCACTTCAAATAGGAATCAAACCAGCCGGTCGAGAGTATCTTCAAGTCCAGGGGTAAAAGGA
GGAGCCACTACAGTTCTAAAACCAGGGAATTCTAAAGCTGCAAAACCCAAAGATCCTGTGGAAGTTGCACAACCATCAGAAGTTTTGAGGACAGTGCAGCCCACG
CAGTCTCCATATCCTACCCAGCTCTTCCGGACTGTTCATGTAGTACAGCCAGTACAGGCTGTCCCAGAGGGAGAAGCAGCTAGAACCAGTACCATGCAGGATGAA
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>ELF1|1997|protein
MAAVVQQNDLVFEFASNVMEDERQLGDPAIFPAVIVEHVPGADILNSYAGLACVEEPNDMITESSLDVAEEEIIDDDDDDITLTVEASCHDGDETIETIEAAEAL
LNMDSPGPMLDEKRINGIPEVMETQQVQEKYADSPGASSPEQPKRKKGRKTKPPRPDSPATTPNISVKKKNKDGKGNTIYLWEFLLALLQDKATCPKYIKWTQRE
KGIFKLVDSKAVSRLWGKHKNKPDMNYETMGRALRYYYQRGILAKVEGQRLVYQFKEMPKDLIYINDEDPSSSIESSDPSLSSSATSNRNQTSRSRVSSSPGVKG
GATTVLKPGNSKAAKPKDPVEVAQPSEVLRTVQPTQSPYPTQLFRTVHVVQPVQAVPEGEAARTSTMQDETLNSSVQSIRTIQAPTQVPVVVSPRNQQLHTVTLQ
TVPLTTVIASTDPSAGTGSQKFILQAIPSSQPMTVLKENVMLQSQKAGSPPSIVLGPAQVQQVLTSNVQTICNGTVSVASSPSFSATAPVVTFSPRSSQLVAHPP
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Brand H, 2015 - CMA;WGS--ASD - - - - 259 - 259
Linkage Studies Top