AutismKB 2.0

Evidence Details for KLHDC7A


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Basic Information Top
Gene Symbol:KLHDC7A ( FLJ38753,RP11-422P22.2 )
Gene Full Name: kelch domain containing 7A
Band: 1p36.13
Quick LinksEntrez ID:127707; OMIM: NA; Uniprot ID:KLD7A_HUMAN; ENSEMBL ID: ENSG00000179023; HGNC ID: 26791
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KLHDC7A|127707|nucleotide
ATGTTCCCCAGAGGAGCAGAGGCCCAGGACTGGCATTTGGATATGCAGCTGACCGGCAAGGTGGTGCTGTCAGCCGCTGCCCTGCTCCTGGTGACTGTGGCCTAC
AGGCTGTACAAGTCGAGGCCTGCCCCAGCCCAGCGGTGGGGTGGGAATGGCCAGGCAGAAGCCAAGGAGGAAGCAGAGGGCTCAGGGCAGCCTGCTGTACAGGAG
GCTTCTCCTGGGGTGCTCCTGAGGGGGCCAAGACGTCGGAGGAGCAGCAAGCGGGCTGAAGCACCACAGGGCTGCAGCTGTGAGAATCCAAGAGGCCCCTATGTC
CTGGTCACGGGGGCCACTTCCACAGACAGGAAGCCCCAGAGAAAAGGCTCAGGTGAGGAGCGGGGCGGGCAGGGCTCGGACTCTGAGCAGGTGCCTCCTTGCTGC
CCCAGCCAGGAAACCAGAACAGCTGTTGGCAGTAACCCTGACCCTCCCCATTTCCCCCGCTTGGGCAGCGAACCGAAGAGCTCCCCAGCTGGACTCATTGCAGCA
GCCGACGGCAGCTGTGCCGGTGGTGAGCCTTCTCCATGGCAGGACAGTAAACCCCGTGAGCATCCAGGACTGGGGCAACTAGAACCTCCCCACTGTCACTACGTG
GCTCCCTTGCAAGGCAGCAGTGACATGAACCAGAGCTGGGTCTTCACCCGTGTGATAGGGGTCAGCAGAGAAGAGGCTGGGGCTCTCGAGGCTGCCTCCGATGTT
GACCTGACCCTGCATCAGCAGGAGGGCGCCCCCAACTCCTCCTATACCTTCTCATCCATAGCCCGCGTCCGAATGGAGGAGCATTTCATACAGAAGGCGGAGGGG
GTTGAGCCCCGGCTCAAGGGCAAGGTGTACGACTACTATGTGGAATCTACCTCTCAGGCCATCTTCCAGGGCAGGCTGGCTCCCAGGACAGCAGCCCTGACTGAG
GTTCCATCCCCTAGGCCACCGCCAGGGTCCCTGGGAACAGGGGCTGCCTCGGGAGGCCAAGCCGGTGACACAAAGGGTGCAGCCGAAAGAGCCGCCTCCCCGCAG
ACAGGGCCGTGGCCCTCCACCCGAGGCTTCAGCCGGAAGGAGAGCCTTCTGCAGATAGCGGAGAACCCAGAGCTGCAGCTGCAGCCAGATGGCTTCCGGCTCCCC
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>KLHDC7A|127707|protein
MFPRGAEAQDWHLDMQLTGKVVLSAAALLLVTVAYRLYKSRPAPAQRWGGNGQAEAKEEAEGSGQPAVQEASPGVLLRGPRRRRSSKRAEAPQGCSCENPRGPYV
LVTGATSTDRKPQRKGSGEERGGQGSDSEQVPPCCPSQETRTAVGSNPDPPHFPRLGSEPKSSPAGLIAAADGSCAGGEPSPWQDSKPREHPGLGQLEPPHCHYV
APLQGSSDMNQSWVFTRVIGVSREEAGALEAASDVDLTLHQQEGAPNSSYTFSSIARVRMEEHFIQKAEGVEPRLKGKVYDYYVESTSQAIFQGRLAPRTAALTE
VPSPRPPPGSLGTGAASGGQAGDTKGAAERAASPQTGPWPSTRGFSRKESLLQIAENPELQLQPDGFRLPAPPCPDPGALPGLGRSSREPHVQPVAGTNFFHIPL
TPASAPQVRLDLGNCYEVLTLAKRQNLEALKEAAYKVMSENYLQVLRSPDIYGCLSGAERELILQRRLRGRQYLVVADVCPKEDSGGLCCYDDEQDVWRPLARMP
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top