AutismKB 2.0

Evidence Details for C3orf52


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Basic Information Top
Gene Symbol:C3orf52 ( FLJ23186,TTMP )
Gene Full Name: chromosome 3 open reading frame 52
Band: 3q13.2
Quick LinksEntrez ID:79669; OMIM: 611956; Uniprot ID:TTMP_HUMAN; ENSEMBL ID: ENSG00000114529; HGNC ID: 26255
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C3orf52|79669|nucleotide
ATGGACCTGGCCCAACCCTCACAGCCAGTAGACGAGCTGGAGCTCTCGGTGCTCGAGCGGCAGCCAGAAGAGAACACGCCTCTCAATGGTGCCGACAAGGTCTTC
CCTTCTTTGGACGAGGAGGTCCCCCCGGCCGAGGCTAACAAGGAAAGCCCCTGGAGCTCCTGTAATAAGAATGTGGTTGGAAGATGCAAACTGTGGATGATCATC
ACCTCCATTTTCCTAGGTGTCATTACAGTGATCATCATAGGCTTATGTCTTGCTGCAGTAACTTATGTTGATGAAGATGAAAATGAAATACTTGAATTATCATCA
AACAAAACATTCTTCATCATGCTGAAGATTCCAGAGGAGTGTGTTGCTGAAGAGGAATTGCCTCACCTGCTCACCGAAAGGAATGAAGTGATGGAGGCTGGTCTC
TGTCTGAAAGCAGTGCTCTACCAAGTCCTGGAGATGAAGGGAATTCACTCTGTTTTGCAGAAAAGATTCTGTGGATTAATACAGAAGCACCAGCAACACCAGAGG
GGTGGAGACTCCTTTCTCTCCCGATTCTACAGTCTGGCTCTAAGCCCAGTAAAACAGCTCCCGAGCACTGCTTCAGCTGGGTCCAGTCTTGACAAAGGCAGGAAG
CCAGCTAGGGTGGGGGCGATAGGGTCAGCGGGTATGTCCCACTGTTGGAGGTCACTGGTATTCTGTTTGTTTTTGTTTTGTTTCGTTTTGTTTTTTGAGACAGGG
TCTCGTTCTGTCGCTTAG



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>C3orf52|79669|protein
MDLAQPSQPVDELELSVLERQPEENTPLNGADKVFPSLDEEVPPAEANKESPWSSCNKNVVGRCKLWMIITSIFLGVITVIIIGLCLAAVTYVDEDENEILELSS
NKTFFIMLKIPEECVAEEELPHLLTERNEVMEAGLCLKAVLYQVLEMKGIHSVLQKRFCGLIQKHQQHQRGGDSFLSRFYSLALSPVKQLPSTASAGSSLDKGRK
PARVGAIGSAGMSHCWRSLVFCLFLFCFVLFFETGSRSVA


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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) 1 (1) 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
Linkage Studies Top