AutismKB 2.0

Evidence Details for ERCC6L


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Basic Information Top
Gene Symbol:ERCC6L ( FLJ20105,MGC131695,PICH )
Gene Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 6-like
Band: Xq13.1
Quick LinksEntrez ID:54821; OMIM: 300687; Uniprot ID:ERC6L_HUMAN; ENSEMBL ID: ENSG00000186871; HGNC ID: 20794
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ERCC6L|54821|nucleotide
ATGGAGGCATCCCGAAGGTTTCCGGAAGCCGAGGCCTTGAGCCCAGAGCAGGCTGCTCATTACCTAAGATATGTGAAAGAGGCCAAAGAAGCAACTAAGAATGGA
GACCTGGAAGAAGCATTTAAACTTTTCAATTTGGCAAAGGACATTTTTCCCAATGAAAAAGTGCTGAGCAGAATCCAAAAAATACAGGAAGCCTTGGAGGAGTTG
GCAGAACAGGGAGATGATGAATTTACAGATGTGTGCAACTCTGGCTTGCTACTTTATCGAGAACTGCACAACCAACTCTTTGAGCACCAGAAGGAAGGCATAGCT
TTCCTCTATAGCCTGTATAGGGATGGAAGAAAAGGTGGTATATTGGCTGATGATATGGGATTAGGGAAGACTGTTCAAATCATTGCTTTCCTTTCCGGTATGTTT
GATGCATCACTTGTGAATCATGTGCTGCTGATCATGCCAACCAATCTTATTAACACATGGGTAAAAGAATTCATCAAGTGGACTCCAGGAATGAGAGTCAAAACC
TTTCATGGTCCTAGCAAGGATGAACGGACCAGAAACCTCAATCGGATTCAGCAAAGGAATGGTGTTATTATCACTACATACCAAATGTTAATCAATAACTGGCAG
CAACTTTCAAGCTTTAGGGGCCAAGAGTTTGTGTGGGACTATGTCATCCTCGATGAAGCACATAAAATAAAAACCTCATCTACTAAGTCAGCAATATGTGCTCGT
GCTATTCCTGCAAGTAATCGCCTCCTCCTCACAGGAACCCCAATCCAGAATAATTTACAAGAACTATGGTCCCTATTTGATTTTGCTTGTCAAGGGTCCCTGCTG
GGAACATTAAAAACTTTTAAGATGGAGTATGAAAATCCTATTACTAGAGCAAGAGAGAAGGATGCTACCCCAGGAGAAAAAGCCTTGGGATTTAAAATATCTGAA
AACTTAATGGCAATCATAAAACCCTATTTTCTCAGGAGGACTAAAGAAGACGTACAGAAGAAAAAGTCAAGCAACCCAGAGGCCAGACTTAATGAAAAGAATCCA
GATGTTGATGCCATTTGTGAAATGCCTTCCCTTTCCAGGAAAAATGATTTAATTATTTGGATACGACTTGTGCCTTTACAAGAAGAAATATACAGGAAATTTGTG
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>ERCC6L|54821|protein
MEASRRFPEAEALSPEQAAHYLRYVKEAKEATKNGDLEEAFKLFNLAKDIFPNEKVLSRIQKIQEALEELAEQGDDEFTDVCNSGLLLYRELHNQLFEHQKEGIA
FLYSLYRDGRKGGILADDMGLGKTVQIIAFLSGMFDASLVNHVLLIMPTNLINTWVKEFIKWTPGMRVKTFHGPSKDERTRNLNRIQQRNGVIITTYQMLINNWQ
QLSSFRGQEFVWDYVILDEAHKIKTSSTKSAICARAIPASNRLLLTGTPIQNNLQELWSLFDFACQGSLLGTLKTFKMEYENPITRAREKDATPGEKALGFKISE
NLMAIIKPYFLRRTKEDVQKKKSSNPEARLNEKNPDVDAICEMPSLSRKNDLIIWIRLVPLQEEIYRKFVSLDHIKELLMETRSPLAELGVLKKLCDHPRLLSAR
ACCLLNLGTFSAQDGNEGEDSPDVDHIDQVTDDTLMEESGKMIFLMDLLKRLRDEGHQTLVFSQSRQILNIIERLLKNRHFKTLRIDGTVTHLLEREKRINLFQQ
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top