AutismKB 2.0

Evidence Details for EFCAB5


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Basic Information Top
Gene Symbol:EFCAB5 ( DKFZp434G2420,DKFZp686I0638,FLJ46247 )
Gene Full Name: EF-hand calcium binding domain 5
Band: 17q11.2
Quick LinksEntrez ID:374786; OMIM: NA; Uniprot ID:EFCB5_HUMAN; ENSEMBL ID: ENSG00000176927; HGNC ID: 24801
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EFCAB5|374786|nucleotide
ATGGATGAAATCAAATCCCAAGAATTAAACCTGGAGGGGCAGCGAAAAATTTCACCTGGTTCAATAAAGGACTCTAAAACTGAAGCCTCAGGTAATATTGCAATT
AGAAAATCTGCAAAAGTGATTTTTGCTTTAGATGAAACTGAACTGAAATCAAAGCCAGAGCACACATGGAAGAAAAACCTTTTTGAAAGAATGGAGGCAAGAGCC
CAAGCAATGCAGCAGAAAATAATAGATAAGGAAAATCTGAAGAAGGAACTAGAAAAAAAGGCTGAAAAAAAACTCCCTAGGGATAATTTGGCCAAAGAGTGGTTT
AATACTGACAGCATGACACTGAATAATACTGCATATTTGCTTGACAAACTTCTACCCACCTTAGTTCCTGGAGTAGAAAACATGTTAACTCAAGTAGAAAAGAAG
AAGGTTTTGACAGAAGCTGATACTCCAAGCAAGTTTGACCCAATTAATTATTTGGGGGAATATTTAATAAGAAACAATCCTAATTATATCAAAGACCCAGGAATG
TCTGGTTACCAGAGGTTGATGAAAGAAGTCACAGAAGACCTGAAGATATATGTTCCTGACACTATCTGCAACAGAGTATCCAAGATGAAGGAGAATGTTAAACAG
AATAGAAAACAAAGAGAAAGCATAGACAAAATCAAAGTCAAGGTGGCCAACACACGGAAACAGGCTCTGCAGGAGCAATTCGATGAATGGATTCTAGACCCTAAA
GGAATGATTCCTAAGTCAGTGATTCAGAATGTTCTTCAAGAATTCTTTCAAAATCCAGATTTCAAGCTTGGATCACACTGCAAACAACTGGATATTACTGACTCA
ACAGAACCAAGATTGAACAAAATGGAATTTACAGAATACATCTCTTCACATATTAAAGACTTGAAGAGTGAAATGTTTGAGGAACTTCTTAAGCACCTTTGCCAC
TCTGCAGATGAATTTCGGGAGGTCATAAAAGCTGACATGCGGAGGCAGATGTTCGCTGAACTCTTCCTACATTGTGACCACGGGAAGGTAGGGTTTTTGGATCGG
CAGAGGACATTGGCCCTGCTGGAATTGTTCTATGACCATAGTTCACAAATGCTTAGGAGTTTACTTCGAAACCCACGACAATGGCCATTCATTGAATTTGAAGAG
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>EFCAB5|374786|protein
MDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWF
NTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQ
NRKQRESIDKIKVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCH
SADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANH
ASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKG
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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) 2 (6) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 14 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top