AutismKB 2.0

Evidence Details for FANCE


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Basic Information Top
Gene Symbol:FANCE ( FACE,FAE )
Gene Full Name: Fanconi anemia, complementation group E
Band: 6p21.31
Quick LinksEntrez ID:2178; OMIM: 600901; Uniprot ID:FANCE_HUMAN; ENSEMBL ID: ENSG00000112039; HGNC ID: 3586
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FANCE|2178|nucleotide
ATGGCGACACCGGACGCGGGGCTCCCTGGGGCTGAGGGCGTGGAGCCGGCGCCCTGGGCGCAGCTGGAGGCCCCCGCCCGCCTCCTGCTGCAGGCGCTGCAGGCG
GGGCCTGAGGGGGCGCGGCGCGGCCTGGGGGTGCTCCGGGCGCTGGGCAGCCGCGGCTGGGAGCCCTTCGACTGGGGTCGCTTGCTCGAGGCCCTGTGCCGGGAG
GAGCCGGTCGTGCAGGGGCCTGACGGCCGTCTGGAGCTGAAACCACTGTTGCTGCGATTGCCCCGGATATGCCAGAGGAACCTGATGTCCCTGCTGATGGCCGTT
CGGCCATCGCTGCCGGAAAGTGGGCTCCTCTCTGTGCTGCAGATTGCCCAGCAGGACCTAGCCCCTGACCCAGATGCCTGGCTCCGTGCCCTGGGGGAATTGCTG
CGAAGGGATTTGGGGGTGGGGACCTCCATGGAGGGAGCTTCTCCACTGTCTGAAAGATGCCAGAGACAGCTCCAAAGTCTATGTAGGGGGCTGGGCCTGGGGGGC
AGGAGGTTGAAATCCCCCCAGGCTCCAGACCCTGAAGAAGAGGAGAACAGGGACTCCCAGCAGCCTGGGAAACGCAGAAAGGACTCAGAGGAAGAGGCTGCCAGT
CCTGAGGGGAAGAGGGTCCCCAAAAGATTACGGTGTTGGGAAGAGGAAGAAGATCATGAGAAGGAGAGACCCGAACATAAGTCACTGGAATCCCTGGCAGATGGA
GGAAGTGCATCTCCTATTAAGGACCAGCCTGTCATGGCAGTTAAGACTGGCGAGGACGGTTCGAATCTGGATGATGCTAAAGGTCTGGCTGAGAGTTTGGAGTTG
CCCAAAGCTATCCAGGACCAGCTTCCCAGGCTGCAGCAGCTGCTGAAGACCTTGGAGGAGGGGTTAGAGGGATTGGAGGATGCCCCCCCAGTTGAGCTACAGCTT
CTTCACGAATGTAGTCCCAGCCAGATGGACTTGCTGTGTGCCCAGCTGCAGCTCCCTCAGCTCTCAGACCTCGGTCTCCTGCGGCTCTGCACCTGGCTGCTGGCC
CTTTCACCTGATCTCAGCCTCAGCAATGCTACTGTGCTGACCAGAAGCCTCTTTCTTGGACGGATCCTCTCCTTGACTTCCTCAGCCTCCCGCCTGCTTACAACT
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>FANCE|2178|protein
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGRLELKPLLLRLPRICQRNLMSLLMAV
RPSLPESGLLSVLQIAQQDLAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAAS
PEGKRVPKRLRCWEEEEDHEKERPEHKSLESLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQL
LHECSPSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELL
CCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRK
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top