AutismKB 2.0

Evidence Details for C1orf125


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Basic Information Top
Gene Symbol:C1orf125 ( DKFZp686H1423,FLJ25438,FLJ32940,RP11-215I23.2 )
Gene Full Name: chromosome 1 open reading frame 125
Band: 1q25.2
Quick LinksEntrez ID:126859; OMIM: NA; Uniprot ID:CA125_HUMAN; ENSEMBL ID: ENSG00000162779; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C1orf125|126859|nucleotide
ATGTCTCTCCCGAAAACGCCCTCCACCCCGCTAAACTCTACATCAACATCTGAGAGCAAAAAGTTAAAAGTGTCTGTAGCCAAGGAAGGGACAAGAGGACTTCCT
GAGCTAAAGGAGAAAAAAAATATGGTGGATCGTTCAAAACTCCTTCCTACTTCCCTTCAGAATGAGTTCATTCCCAAAGAAGTTCTTCTTTCTCTGACCTATGCG
GCCAATGCTGGTCCTTGTCCTGAAAACTTACTACCTCCTAAGAAAATTAAAACCCCAAAGGGCACTCTTCCACGCCTTGTAGACCATGTCTGGCATCACCCTGTT
CGAAGGAATAAATTCAAATACCTGATTGACCATCCCGTCTCCCTCACAGGAGCTGGAAGGGATATTTCTTTTCTGTACGATGTAACATATGCCAAAGGACAGACT
AGGGAGAAGGCAGTTTGTCCCCCACATTTGGCCCGTTCATTACAGTCACATGATGGTGTCATTGTGCCCCATAAGCCAAAGACACTAACAGATACTTTGATTCCT
GAAGAATTTCATATTGTGTCAAGTACAGGAGTTTCAGGTTTGGAGTGTTATGATGACAAATACACTACTCTCCTCACAGATAGTGAAAACAGGCTATTGCTCTTC
CCATCCATGAAACCTAATAAAAGAGTAGAAGTGGCCCAGCTGAATGATGTGATGGATACTATGCTAGAGAGGGCTGGTGTGGAAAATCAGGAATATACAGGACCA
ACGAAGATGCACAAACTACTACATATATTGAAGAAGGAACAGACCATTTACAACATGATATTTCATGAACTTATTCGACAAGTCAGTGTGGACTGTGCAGACAGA
GGAGAACTTCTGTCTAAAGTCAGAGAGAGGTATGTGCAAATGCTTGACCAGATTGCTCGGCAGATGATTGATTTCTACAAAGACTTGGTAACTCAGCGAGTGATG
GACCAGCGCATTTTAGAAGAATTGTATAATTTCAAGCATGTTATTGAAGAACTGACCAGGGAACTGTGTCTAGTTCGGGCACATGATGTGAAATTAACAAAGGAA
ACAGAAAAAGCCCACAAGGATTTGGCACAAGCTCTTTTAAATGCGGAAAAGAATGCCAAAATAGTAGAAGAATATCATGACTTATATACATTACAAAGAGAAAGG
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>C1orf125|126859|protein
MSLPKTPSTPLNSTSTSESKKLKVSVAKEGTRGLPELKEKKNMVDRSKLLPTSLQNEFIPKEVLLSLTYAANAGPCPENLLPPKKIKTPKGTLPRLVDHVWHHPV
RRNKFKYLIDHPVSLTGAGRDISFLYDVTYAKGQTREKAVCPPHLARSLQSHDGVIVPHKPKTLTDTLIPEEFHIVSSTGVSGLECYDDKYTTLLTDSENRLLLF
PSMKPNKRVEVAQLNDVMDTMLERAGVENQEYTGPTKMHKLLHILKKEQTIYNMIFHELIRQVSVDCADRGELLSKVRERYVQMLDQIARQMIDFYKDLVTQRVM
DQRILEELYNFKHVIEELTRELCLVRAHDVKLTKETEKAHKDLAQALLNAEKNAKIVEEYHDLYTLQRERMENDMKKLVAERDIWSSATYELALKVIERNRVILA
RRLYLNEKGWNKYTKHFIILLSNKDTEDLALLQKLTQKWRNLVNKLKQEVEQMEESTSETLKIVKDGLIKWQEFFNEKDILSPNKGNIFNSVLLDFKQWQKILNE
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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 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top