AutismKB 2.0

Evidence Details for EFCAB6


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Basic Information Top
Gene Symbol:EFCAB6 ( DJBP,FLJ23588,HSCBCIP1,KIAA1672,dJ185D5.1 )
Gene Full Name: EF-hand calcium binding domain 6
Band: 22q13.2-q13.31
Quick LinksEntrez ID:64800; OMIM: NA; Uniprot ID:EFCB6_HUMAN; ENSEMBL ID: ENSG00000186976; HGNC ID: 24204
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EFCAB6|64800|nucleotide
ATGTGCAAAATGGCGATTATACCAGACTGGCTTAGGTCGCATCCTCACACACGAAAATTTACACATTCAAGACCCCATTCTTCACCGTGTAGAGTATATTCAAGG
AATGGTTCCCCAAATAAGTTCAGATCTTCTTCAACCACAGCTGTTGCAAATCCAACACTGTCCTCCTTAGATGTTAAACGGATTTTATTTCAAAAAATTACCGAC
AGAGGGGATGAGTTGCAAAAAGCCTTTCAGCTGCTGGATACTGGTCAGAACTTGACTGTGTCAAAAAGTGAACTGAGAAGAATCATCACAGACTTCCTGATGCCG
CTCACACGAGAACAGTTTCAGGACGTGTTGGCTCAGATCCCCCTTAGCACCTCTGGTACTGTACCGTACCTTGCCTTTCTGTCCAGGTTTGGTGGAATTGACCTA
TATATAAATGGTATAAAGAGGGGAGGTGGGAATGAAATGAATTGCTGCCGCACATTAAGAGAACTTGAAATCCAAGTGGGAGAAAAGGTTTTCAAAAACATTAAG
ACTGTTATGAAAGCCTTTGAGCTCATTGATGTTAACAAGACTGGACTGGTTCGACCGCAGGAGCTAAGAAGGGTTCTGGAGACCTTCTGTATGAAGTTAAGAGAC
GAGGAATACGAAAAGTTTTCGAAACACTACAACATCCACAAGGATACTGCAGTAGATTACAACGTGTTTTTGAAGAATCTCAGCATAAATAACGACTTGAACCTT
AGATATTGTATGGGAAATCAAGAGGTCTCGTTGGAGAATCAACAAGCCAAAAATTCCAAAAAGGAACGTTTGCTAGGTTCTGCATCATCTGAAGATATCTGGAGA
AACTACTCCTTGGATGAAATTGAGAGGAACTTTTGTCTACAACTTTCGAAGTCTTATGAAAAGGTTGAAAAGGCCCTCAGTGCAGGGGACCCCTGTAAAGGTGGC
TACGTGTCTTTTAATTATCTAAAGATTGTCCTCGACACTTTTGTATACCAAATACCAAGAAGAATTTTTATCCAGTTAATGAAAAGATTTGGACTTAAAGCCACC
ACTAAAATCAATTGGAAGCAATTTCTAACATCATTTCATGAGCCTCAGGGGTTGCAAGTTAGCAGTAAAGGTCCCCTGACAAAAAGAAATAGCATCAACTCTAGA
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>EFCAB6|64800|protein
MCKMAIIPDWLRSHPHTRKFTHSRPHSSPCRVYSRNGSPNKFRSSSTTAVANPTLSSLDVKRILFQKITDRGDELQKAFQLLDTGQNLTVSKSELRRIITDFLMP
LTREQFQDVLAQIPLSTSGTVPYLAFLSRFGGIDLYINGIKRGGGNEMNCCRTLRELEIQVGEKVFKNIKTVMKAFELIDVNKTGLVRPQELRRVLETFCMKLRD
EEYEKFSKHYNIHKDTAVDYNVFLKNLSINNDLNLRYCMGNQEVSLENQQAKNSKKERLLGSASSEDIWRNYSLDEIERNFCLQLSKSYEKVEKALSAGDPCKGG
YVSFNYLKIVLDTFVYQIPRRIFIQLMKRFGLKATTKINWKQFLTSFHEPQGLQVSSKGPLTKRNSINSRNESHKENIITKLFRHTEDHSASLKKALLIINTKPD
GPITREEFRYILNCMAVKLSDSEFKELMQMLDPGDTGVVNTSMFIDLIEENCRMRKTSPCTDAKTPFLLAWDSVEEIVHDTITRNLQAFYNMLRSYDLGDTGRIG
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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (5)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top