AutismKB 2.0

Evidence Details for ABCF1


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Basic Information Top
Gene Symbol:ABCF1 ( ABC27,ABC50 )
Gene Full Name: ATP-binding cassette, sub-family F (GCN20), member 1
Band: 6p21.33
Quick LinksEntrez ID:23; OMIM: 603429; Uniprot ID:ABCF1_HUMAN; ENSEMBL ID: ENSG00000204574; HGNC ID: 70
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABCF1|23|nucleotide
ATGCCGAAGGCGCCCAAGCAGCAGCCGCCGGAGCCCGAGTGGATCGGGGACGGAGAGAGCACGAGCCCATCAGACAAAGTGGTGAAGAAAGGGAAGAAGGACAAG
AAGATCAAAAAAACGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAA
CAGCAGCAAAAAAAAAAGCGAGATACCCGAAAAGGCAGGCGGAAGAAGGATGTGGATGATGATGGAGAAGAGAAAGAGCTCATGGAGCGTCTTAAGAAGCTCTCA
GTGCCAACCAGTGATGAGGAGGATGAAGTACCCGCCCCAAAACCCCGCGGAGGGAAGAAAACCAAGGGTGGTAATGTTTTTGCAGCCCTGATTCAGGATCAGAGT
GAGGAAGAGGAGGAGGAAGAAAAACATCCTCCTAAGCCTGCCAAGCCGGAGAAGAATCGGATCAATAAGGCCGTATCTGAGGAACAGCAGCCTGCACTCAAGGGC
AAAAAGGGAAAGGAAGAGAAGTCAAAAGGGAAGGCTAAGCCTCAAAATAAATTCGCTGCTCTGGACAATGAAGAGGAGGATAAAGAAGAAGAAATTATAAAGGAA
AAGGAGCCTCCCAAACAAGGGAAGGAGAAGGCCAAGAAGGCAGAGCAGGGTTCAGAGGAAGAAGGAGAAGGGGAAGAAGAGGAGGAGGAAGGAGGAGAGTCTAAG
GCAGATGATCCCTATGCTCATCTTAGCAAAAAGGAGAAGAAAAAGCTGAAAAAACAGATGGAGTATGAGCGCCAAGTGGCTTCATTAAAAGCAGCCAATGCAGCT
GAAAATGACTTCTCCGTGTCCCAGGCGGAGATGTCCTCCCGCCAAGCCATGTTAGAAAATGCATCTGACATCAAGCTGGAGAAGTTCAGCATCTCCGCTCATGGC
AAGGAGCTGTTCGTCAATGCAGACCTGTACATTGTAGCCGGCCGCCGCTACGGGCTGGTAGGACCCAATGGCAAGGGCAAGACCACACTCCTCAAGCACATTGCC
AACCGAGCCCTGAGCATCCCTCCCAACATTGATGTGTTGCTGTGTGAGCAGGAGGTGGTAGCAGATGAGACACCAGCAGTCCAGGCTGTTCTTCGAGCTGACACC
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>ABCF1|23|protein
MPKAPKQQPPEPEWIGDGESTSPSDKVVKKGKKDKKIKKTFFEELAVEDKQAGEEEKVLKEKEQQQQQQQQQQKKKRDTRKGRRKKDVDDDGEEKELMERLKKLS
VPTSDEEDEVPAPKPRGGKKTKGGNVFAALIQDQSEEEEEEEKHPPKPAKPEKNRINKAVSEEQQPALKGKKGKEEKSKGKAKPQNKFAALDNEEEDKEEEIIKE
KEPPKQGKEKAKKAEQGSEEEGEGEEEEEEGGESKADDPYAHLSKKEKKKLKKQMEYERQVASLKAANAAENDFSVSQAEMSSRQAMLENASDIKLEKFSISAHG
KELFVNADLYIVAGRRYGLVGPNGKGKTTLLKHIANRALSIPPNIDVLLCEQEVVADETPAVQAVLRADTKRLKLLEEERRLQGQLEQGDDTAAERLEKVYEELR
ATGAAAAEAKARRILAGLGFDPEMQNRPTQKFSGGWRMRVSLARALFMEPTLLMLDEPTNHLDLNAVIWLNNYLQGWRKTLLIVSHDQGFLDDVCTDIIHLDAQR
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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 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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