AutismKB 2.0

Evidence Details for POM121C


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Basic Information Top
Gene Symbol:POM121C ( DKFZp586P2220,DKFZp779K1713,FLJ43877,FLJ45082,MGC163459,MGC163461,POM121-2 )
Gene Full Name: POM121 membrane glycoprotein C
Band: 7q11.23
Quick LinksEntrez ID:100101267; OMIM: NA; Uniprot ID:P121C_HUMAN; ENSEMBL ID: ENSG00000135213; HGNC ID: 34005
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POM121C|100101267|nucleotide
ATGGTGTGTAGCCCAGTGACTGTGAGGATCGCCCCTCCTGACAGAAGATTTTCACGTTCTGCGATACCAGAGCAGATAATCAGCTCAACACTGTCGTCACCATCA
AGTAATGCCCCAGACCCATGTGCAAAGGAGACTGTACTGAGTGCCCTCAAAGAGAAGAAGAAGAAAAGGACAGTGGAGGAAGAAGACCAAATATTCCTTGATGGC
CAGGAAAATAAAAGAAGGCGCCATGATAGCAGTGGCAGTGGACATTCAGCATTTGAGCCCCTGGTGGCCAGTGGAGTCCCCGCTTCTTTTGTGCCTAAGCCTGGG
TCTCTGAAGAGAGGCCTCAATTCTCAGAGCTCAGATGACCACTTGAATAAGAGATCCCGAAGCTCTTCCATGAGCTCCTTGACAGGCGCTTACACAAGTGGCATC
CCTAGCTCCAGCCGCAATGCCATTACCAGTTCCTACAGCTCCACTCGAGGCATCTCACAGCTCTGGAAGAGAAATGGCCCCAGTTCATCACCCTTCTCTAGCCCA
GCCTCATCCCGCTCCCAGACACCGGAGAGGCCAGCAAAGAAAATAAGAGAAGAAGAGCTGTGTCATCATTCCAGTTCTTCAACTCCATTGGCAGCAGACAAGGAG
TCCCAGGGAGAAAAGGCTGCAGATACAACCCCAAGGAAGAAACAAAACTCGAATTCTCAGTCTACACCTGGCAGCTCTGGGCAGCGTAAGCGGAAAGTTCAGCTG
CTGCCTTCTCGGCGAGGGGAACAGCTGACCTTGCCTCCACCTCCCCAGCTTGGCTATTCGATCACTGCCGAGGACCTAGACTTAGAGAAGAAGGCTTCATTACAG
TGGTTCAACCAGGCCTTGGAGGACAAGAGTGATGCTGCCTCGAACTCTGTCACTGAGACCCCACCTACCACTCAGCCTTCATTTACCTTTACCCTGCCTGCTGCT
GCAACTGCCTCCCCACCCACCTCCCTCCTGGCCCCAAGCACCAACCCACTGTTAGAGAGCTTGAAGAAGATGCAGACTCCCCCGAGCCTGCCACCCTGCCCAGAA
TCTGCTGGAGCAGCAACCACTGAGGCCCTCTCACCTCCAAAGACACCCAGCCTCCTACCCCCGCTGGGTTTATCACAGTCAGGGCCGCCAGGGCTGCTCCCCAGC
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>POM121C|100101267|protein
MVCSPVTVRIAPPDRRFSRSAIPEQIISSTLSSPSSNAPDPCAKETVLSALKEKKKKRTVEEEDQIFLDGQENKRRRHDSSGSGHSAFEPLVASGVPASFVPKPG
SLKRGLNSQSSDDHLNKRSRSSSMSSLTGAYTSGIPSSSRNAITSSYSSTRGISQLWKRNGPSSSPFSSPASSRSQTPERPAKKIREEELCHHSSSSTPLAADKE
SQGEKAADTTPRKKQNSNSQSTPGSSGQRKRKVQLLPSRRGEQLTLPPPPQLGYSITAEDLDLEKKASLQWFNQALEDKSDAASNSVTETPPTTQPSFTFTLPAA
ATASPPTSLLAPSTNPLLESLKKMQTPPSLPPCPESAGAATTEALSPPKTPSLLPPLGLSQSGPPGLLPSPSFDSKPPTTLLGLIPAPSMVPATDTKAPPTLQAE
TATKPQATSAPSPAPKQSFLFGTQNTSPSSPAAPAASSASPMFKPIFTAPPKSEKEGPTPPGPSVTATAPSSSSLPTTTSTTAPTFQPVFSSMGPPASVPLPAPF
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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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top