AutismKB 2.0

Evidence Details for EFCAB7


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Basic Information Top
Gene Symbol:EFCAB7 ( DKFZp666D225,KIAA1799,RP4-534K7.1 )
Gene Full Name: EF-hand calcium binding domain 7
Band: 1p31.3
Quick LinksEntrez ID:84455; OMIM: NA; Uniprot ID:EFCB7_HUMAN; ENSEMBL ID: ENSG00000203965; HGNC ID: 29379
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EFCAB7|84455|nucleotide
ATGGCGATCAGTCCACGAAGCGATGCAACTTTCTCCAGTCAGAAATCAACACCTTCAGAGAGTCCTCGAACAAAGAAATTTCCACTAACTGAAGAGGAAATATTT
TATATGAATTGTAGAGCTGCCTACTTAACTGTCTTCAAAAGCAGCTTGGAAAACATTATTTCTAAAGATCAACTTTACTTAGCTCTTCAGCATGCAGGAAGAAAT
CCATCCCAAAAGACCATTAATAAGTATTGGACTCCTCAAACTGCCAAACTGAATTTTGATGATTTTTGTATAATTTTAAGGAAGGAAAAACCTACTTCAAAAGCA
GAACTACTAAAATCATTTAAGCAATTAGATGTAAATGATGATGGCTGTATTTTACACACTGACCTTTATAAATTTCTAACAAAGAGAGGTGAGAAGATGACTCGA
GAAGAAGTAAATGCCATAATAAATTTGGCTGATGTAAATGCTGATGGCAAATTTGACTACATCAAGTTTTGTAAATTATATATGACAACCAACGAGCAATGTCTC
AAGACTACACTAGAAAAACTAGAGGTTGACAGTAAATTGATGCGTCACCAGTTTGGAAACCACATCGAAGGGTCCCCTGAAAGGGACCCATCACCAGTACCAAAA
CCATCACCTAAAATCACAAGAAAAACTGATCCAGAAACATTCTTAAATAAAGGTGACACCAGGAGTTCTTTACTGTCAGCAACCAGGAAGTTCAAAACATCTGTT
TCCTTCACAGTTACCATGGGGGCTAATGGTAACCGAAACTCAAAGTTAATGGAGCCAAATTTAATAAAGGACTGGCAACACATGCAATCAAAAGGTTGCTTCTTC
TTAGAAGAAGATGGTGAAATCATTAGTCATCAGTACAGGATGCAAATAGCTCAGAGGTCCATGGTTTATCTAACAATTAAGCCATTAAACCTGAGTCAAGTTGAA
GGAAAACCATCCCCTTGGTTATCCGTTGATACTGCCTTGTATATTCTCAAGGAAAATGAGAGTCAAGCAAATCTACAGCTTGTGTGTTTTACCGAACTACGAAAT
AGAGAAGTGTTTGGATGGACTGGTGAACTAGGACCTGGAATTTACTGGTTAATTCCTTCCACAACTGGCTGTAGGCTGAGGAAAAAAATAAAACCAGTAACAGAT
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>EFCAB7|84455|protein
MAISPRSDATFSSQKSTPSESPRTKKFPLTEEEIFYMNCRAAYLTVFKSSLENIISKDQLYLALQHAGRNPSQKTINKYWTPQTAKLNFDDFCIILRKEKPTSKA
ELLKSFKQLDVNDDGCILHTDLYKFLTKRGEKMTREEVNAIINLADVNADGKFDYIKFCKLYMTTNEQCLKTTLEKLEVDSKLMRHQFGNHIEGSPERDPSPVPK
PSPKITRKTDPETFLNKGDTRSSLLSATRKFKTSVSFTVTMGANGNRNSKLMEPNLIKDWQHMQSKGCFFLEEDGEIISHQYRMQIAQRSMVYLTIKPLNLSQVE
GKPSPWLSVDTALYILKENESQANLQLVCFTELRNREVFGWTGELGPGIYWLIPSTTGCRLRKKIKPVTDEAQLVYRDETGELFLTKEFKSTLSDIFEVIDLDGN
GLLSLEEYNFFELRTSGEKCDEDAWAVCRENFDTKRNELTRQGFMDLNLMEANDREGDPCDLWVTLHSMGYNKALELTEACPFVIDIYAEKCKPKIKAVHMEACS
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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 (1) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top