AutismKB 2.0

Evidence Details for PTCH2


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Basic Information Top
Gene Symbol:PTCH2 ( PTC2 )
Gene Full Name: patched 2
Band: 1p34.1
Quick LinksEntrez ID:8643; OMIM: 603673; Uniprot ID:PTC2_HUMAN; ENSEMBL ID: ENSG00000117425; HGNC ID: 9586
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTCH2|8643|nucleotide
ATGACTCGATCGCCGCCCCTCAGAGAGCTGCCCCCGAGTTACACACCCCCAGCTCGAACCGCAGCACCCCAGATCCTAGCTGGGAGCCTGAAGGCTCCACTCTGG
CTTCGTGCTTACTTCCAGGGCCTGCTCTTCTCTCTGGGATGCGGGATCCAGAGACATTGTGGCAAAGTGCTCTTTCTGGGACTGTTGGCCTTTGGGGCCCTGGCA
TTAGGTCTCCGCATGGCCATTATTGAGACAAACTTGGAACAGCTCTGGGTAGAAGTGGGCAGCCGGGTGAGCCAGGAGCTGCATTACACCAAGGAGAAGCTGGGG
GAGGAGGCTGCATACACCTCTCAGATGCTGATACAGACCGCACGCCAGGAGGGAGAGAACATCCTCACACCCGAAGCACTTGGCCTCCACCTCCAGGCAGCCCTC
ACTGCCAGTAAAGTCCAAGTATCACTCTATGGGAAGTCCTGGGATTTGAACAAAATCTGCTACAAGTCAGGAGTTCCCCTTATTGAAAATGGAATGATTGAGCGG
ATGATTGAGAAGCTGTTTCCGTGCGTGATCCTCACCCCCCTCGACTGCTTCTGGGAGGGAGCCAAACTCCAAGGGGGCTCCGCCTACCTGCCCGGCCGCCCGGAT
ATCCAGTGGACCAACCTGGATCCAGAGCAGCTGCTGGAGGAGCTGGGTCCCTTTGCCTCCCTTGAGGGCTTCCGGGAGCTGCTAGACAAGGCACAGGTGGGCCAG
GCCTACGTGGGGCGGCCCTGTCTGCACCCTGATGACCTCCACTGCCCACCTAGTGCCCCCAACCATCACAGCAGGCAGGCTCCCAATGTGGCTCACGAGCTGAGT
GGGGGCTGCCATGGCTTCTCCCACAAATTCATGCACTGGCAGGAGGAATTGCTGCTGGGAGGCATGGCCAGAGACCCCCAAGGAGAGCTGCTGAGGGCAGAGGCC
CTGCAGAGCACCTTCTTGCTGATGAGTCCCCGCCAGCTGTACGAGCATTTCCGGGGTGACTATCAGACACATGACATTGGCTGGAGTGAGGAGCAGGCCAGCACA
GTGCTACAAGCCTGGCAGCGGCGCTTTGTGCAGCTGGCCCAGGAGGCCCTGCCTGAGAACGCTTCCCAGCAGATCCATGCCTTCTCCTCCACCACCCTGGATGAC
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>PTCH2|8643|protein
MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLG
EEAAYTSQMLIQTARQEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPD
IQWTNLDPEQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEA
LQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQ
SQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALR
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top