AutismKB 2.0

Evidence Details for CFLAR


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Basic Information Top
Gene Symbol:CFLAR ( CASH,CASP8AP1,CLARP,Casper,FLAME,FLAME-1,FLAME1,FLIP,I-FLICE,MRIT,c-FLIP,c-FLIPL,c-FLIPR,c-FLIPS )
Gene Full Name: CASP8 and FADD-like apoptosis regulator
Band: 2q33.1
Quick LinksEntrez ID:8837; OMIM: 603599; Uniprot ID:CFLAR_HUMAN; ENSEMBL ID: ENSG00000003402; HGNC ID: 1876
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CFLAR|8837|nucleotide
ATGTCTGCTGAAGTCATCCATCAGGTTGAAGAAGCACTTGATACAGATGAGAAGGAGATGCTGCTCTTTTTGTGCCGGGATGTTGCTATAGATGTGGTTCCACCT
AATGTCAGGGACCTTCTGGATATTTTACGGGAAAGAGGTAAGCTGTCTGTCGGGGACTTGGCTGAACTGCTCTACAGAGTGAGGCGATTTGACCTGCTCAAACGT
ATCTTGAAGATGGACAGAAAAGCTGTGGAGACCCACCTGCTCAGGAACCCTCACCTTGTTTCGGACTATAGAGTGCTGATGGCAGAGATTGGTGAGGATTTGGAT
AAATCTGATGTGTCCTCATTAATTTTCCTCATGAAGGATTACATGGGCCGAGGCAAGATAAGCAAGGAGAAGAGTTTCTTGGACCTTGTGGTTGAGTTGGAGAAA
CTAAATCTGGTTGCCCCAGATCAACTGGATTTATTAGAAAAATGCCTAAAGAACATCCACAGAATAGACCTGAAGACAAAAATCCAGAAGTACAAGCAGTCTGTT
CAAGGAGCAGGGACAAGTTACAGGAATGTTCTCCAAGCAGCAATCCAAAAGAGTCTCAAGGATCCTTCAAATAACTTCAGGCTCCATAATGGGAGAAGTAAAGAA
CAAAGACTTAAGGAACAGCTTGGCGCTCAACAAGAACCAGTGAAGAAATCCATTCAGGAATCAGAAGCTTTTTTGCCTCAGAGCATACCTGAAGAGAGATACAAG
ATGAAGAGCAAGCCCCTAGGAATCTGCCTGATAATCGATTGCATTGGCAATGAGACAGAGCTTCTTCGAGACACCTTCACTTCCCTGGGCTATGAAGTCCAGAAA
TTCTTGCATCTCAGTATGCATGGTATATCCCAGATTCTTGGCCAATTTGCCTGTATGCCCGAGCACCGAGACTACGACAGCTTTGTGTGTGTCCTGGTGAGCCGA
GGAGGCTCCCAGAGTGTGTATGGTGTGGATCAGACTCACTCAGGGCTCCCCCTGCATCACATCAGGAGGATGTTCATGGGAGATTCATGCCCTTATCTAGCAGGG
AAGCCAAAGATGTTTTTTATTCAGAACTATGTGGTGTCAGAGGGCCAGCTGGAGGACAGCAGCCTCTTGGAGGTGGATGGGCCAGCGATGAAGAATGTGGAATTC
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>CFLAR|8837|protein
MSAEVIHQVEEALDTDEKEMLLFLCRDVAIDVVPPNVRDLLDILRERGKLSVGDLAELLYRVRRFDLLKRILKMDRKAVETHLLRNPHLVSDYRVLMAEIGEDLD
KSDVSSLIFLMKDYMGRGKISKEKSFLDLVVELEKLNLVAPDQLDLLEKCLKNIHRIDLKTKIQKYKQSVQGAGTSYRNVLQAAIQKSLKDPSNNFRLHNGRSKE
QRLKEQLGAQQEPVKKSIQESEAFLPQSIPEERYKMKSKPLGICLIIDCIGNETELLRDTFTSLGYEVQKFLHLSMHGISQILGQFACMPEHRDYDSFVCVLVSR
GGSQSVYGVDQTHSGLPLHHIRRMFMGDSCPYLAGKPKMFFIQNYVVSEGQLEDSSLLEVDGPAMKNVEFKAQKRGLCTVHREADFFWSLCTADMSLLEQSHSSP
SLYLQCLSQKLRQERKRPLLDLHIELNGYMYDWNSRVSAKEKYYVWLQHTLRKKLILSYT
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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 (1) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top