AutismKB 2.0

Evidence Details for NGEF


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Basic Information Top
Gene Symbol:NGEF ( ARHGEF27,EPHEXIN )
Gene Full Name: neuronal guanine nucleotide exchange factor
Band: 2q37.1
Quick LinksEntrez ID:25791; OMIM: 605991; Uniprot ID:NGEF_HUMAN; ENSEMBL ID: ENSG00000066248; HGNC ID: 7807
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NGEF|25791|nucleotide
ATGGAGCTGCTGGCCGCTGCCTTCAGCGCCGCCTGCGCCGTGGACCACGACAGTTCCACCTCGGAAAGCGACGCGCGCGACTCGGCGGCGGGACACCTGCCCGGC
AGTGAGTCGTCCTCCACCCCGGGAAATGGGGCCACGCCCGAGGAGTGGCCGGCCCTGGCCGACAGCCCCACCACGCTCACCGAGGCCCTGCGGATGATCCACCCC
ATTCCCGCCGACTCCTGGAGAAACCTCATTGAACAAATAGGGCTCCTGTATCAGGAATACCGAGATAAATCGACTCTCCAAGAAATCGAAACCAGGAGGCAACAG
GATGCAGAAATAGAAGACAATACCAATGGGTCCCCGGCCAGTGAGGACACCCCGGAGGAGGAAGAAGAAGAGGAGGAGGAGGAGGAGCCGGCCAGCCCACCAGAG
AGGAAGACTCTGCCCCAGATCTGCCTGCTCAGTAACCCCCACTCAAGGTTCAACCTCTGGCAGGATCTTCCCGAGATCCGGAGCAGCGGGGTGCTTGAGATCCTA
CAGCCCGAGGAGATTAAGCTGCAGGAGGCCATGTTCGAGCTGGTCACTTCCGAGGCGTCCTACTACAAGAGTCTGAACCTGCTCGTGTCCCACTTCATGGAGAAC
GAGCGGATAAGGAAGATCCTGCACCCGTCCGAGGCGCACATCCTCTTCTCCAACGTCCTGGACGTGCTGGCTGTCAGTGAGCGGTTCCTCCTGGAGCTGGAGCAC
CGGATGGAGGAGAACATCGTCATCTCTGACGTGTGTGACATTGTGTACCGTTATGCGGCCGACCACTTCTCTGTCTACATCACCTACGTCAGCAATCAGACCTAC
CAGGAGCGGACCTATAAGCAGCTGCTCCAGGAGAAGGCAGCTTTCCGGGAGCTGATCGCGCAGCTAGAGCTCGACCCCAAGTGCAGGGGGCTGCCCTTCTCCTCC
TTCCTCATCCTGCCTTTCCAGAGGATCACACGCCTCAAGCTGTTGGTCCAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGAT
GCTCACAAGGAGCTGGAAATGGTGGTGAAGGCATGCAACGAGGGCGTCAGGAAAATGAGCCGCACGGAACAGATGATCAGCATTCAGAAGAAGATGGAGTTCAAG
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>NGEF|25791|protein
MELLAAAFSAACAVDHDSSTSESDARDSAAGHLPGSESSSTPGNGATPEEWPALADSPTTLTEALRMIHPIPADSWRNLIEQIGLLYQEYRDKSTLQEIETRRQQ
DAEIEDNTNGSPASEDTPEEEEEEEEEEEPASPPERKTLPQICLLSNPHSRFNLWQDLPEIRSSGVLEILQPEEIKLQEAMFELVTSEASYYKSLNLLVSHFMEN
ERIRKILHPSEAHILFSNVLDVLAVSERFLLELEHRMEENIVISDVCDIVYRYAADHFSVYITYVSNQTYQERTYKQLLQEKAAFRELIAQLELDPKCRGLPFSS
FLILPFQRITRLKLLVQNILKRVEERSERECTALDAHKELEMVVKACNEGVRKMSRTEQMISIQKKMEFKIKSVPIISHSRWLLKQGELQQMSGPKTSRTLRTKK
LFHEIYLFLFNDLLVICRQIPGDKYQVFDSAPRGLLRVEELEDQGQTLANVFILRLLENADDREATYMLKASSQSEMKRWMTSLAPNRRTKFVSFTSRLLDCPQV
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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top