AutismKB 2.0

Evidence Details for POM121


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Basic Information Top
Gene Symbol:POM121 ( DKFZp586G1822,DKFZp586P2220,FLJ41820,KIAA0618,MGC3792,POM121A )
Gene Full Name: POM121 membrane glycoprotein
Band: 7q11.23
Quick LinksEntrez ID:9883; OMIM: NA; Uniprot ID:P121A_HUMAN; ENSEMBL ID: ENSG00000196313; HGNC ID: 19702
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POM121|9883|nucleotide
ATGGTGTGTAGCCCAGTGACTGTGAGGATCGCCCCTCCTGACAGAAGATTTTCGCGTTCTGCGATACCAGAGCAGATAATCAGCTCAACACTGTCCTCACCATCA
AGTAACGCCCCAGACCCATGTGCAAAGGAGACAGTACTGAGTGCCCTCAAAGAGAAGGAGAAGAAAAGGACAGTGGAGGAAGAAGACCAAATATTCCTTGATGGC
CAGGAAAATAAAAGAAGGCGCCATGATAGCAGTGGCAGTGGACATTCAGCATTTGAGCCCCTGGTGGCCAATGGAGTCCCCGCTTCTTTTGTGCCTAAGCCTGGG
TCTCTGAAGAGAGGCCTCAATTCTCAGAGCTCAGATGACCACTTGAATAAGAGATCCCGAAGCTCTTCCATGAGCTCCTTGACAGGCGCTTACGCAAGTGGCATC
CCTAGCTCCAGCCGCAATGCCATTACCAGTTCCTACAGCTCCACTCGAGGCATCTCACAGCTCTGGAAGAGAAATGGCCCCAGTTCATCACCCTTCTCTAGCCCA
GCCTCCTCCCGCTCCCAGACACCGGAGAGGCCAGCAAAGAAAATAAGAGAAGAGGAGCTGTGTCATCATTCCAGTTCTTCAACTCCATTGGCAGCAGACAGGGAG
TCCCAGGGAGAAAAGGCTGCAGATACAACCCCAAGGAAGAAACAAAACTCGAATTCTCAGTCTACACCTGGCAGCTCTGGGCAGCGTAAGCGGAAAGTTCAGCTG
CTGCCTTCTCGGCGAGGGGAACAGCTGACCTTGCCTCCACCTCCCCAGCTTGGCTATTCGATCACTGCCGAGGACCTAGACTTAGAGAAGAAGGCTTCATTACAG
TGGTTCAACCAGGCCTTGGAGGACAAGAGCGATGCTGCCTCGAACTCTGTCACTGAGACCCCACCTATCACTCAGCCTTCATTTACCTTTACCCTGCCTGCTGCT
GCACCTGCCTCCCCACCCACCTCCCTCCTGGCCCCAAGCACCAACCCACTGTTAGAGAGCTTGAAGAAGATGCAGACTCCCCCGAGCCTGCCACCCTGCCCAGAA
TCTGCTGGAGCAGCAACCACTGAGGCCCTCTCACCTCCAAAGACACCCAGCCTCCTACCCCCGCTGGGTTTATCACAGTCAGGGCCGCCAGGGCTGCTCCCCAGC
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>POM121|9883|protein
MVCSPVTVRIAPPDRRFSRSAIPEQIISSTLSSPSSNAPDPCAKETVLSALKEKEKKRTVEEEDQIFLDGQENKRRRHDSSGSGHSAFEPLVANGVPASFVPKPG
SLKRGLNSQSSDDHLNKRSRSSSMSSLTGAYASGIPSSSRNAITSSYSSTRGISQLWKRNGPSSSPFSSPASSRSQTPERPAKKIREEELCHHSSSSTPLAADRE
SQGEKAADTTPRKKQNSNSQSTPGSSGQRKRKVQLLPSRRGEQLTLPPPPQLGYSITAEDLDLEKKASLQWFNQALEDKSDAASNSVTETPPITQPSFTFTLPAA
APASPPTSLLAPSTNPLLESLKKMQTPPSLPPCPESAGAATTEALSPPKTPSLLPPLGLSQSGPPGLLPSPSFDSKPPTTLLGLIPAPSMVPATDTKAPPTLQAE
TATKPQATSAPSPAPKQSFLFGTQNTSPSSPAAPAASSAPPMFKPIFTAPPKSEKEGPTPPGPSVTATAPSSSSLPTTTSTTAPTFQPVFSSMGPPASVPLPAPF
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top