AutismKB 2.0

Evidence Details for PLCH1


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Basic Information Top
Gene Symbol:PLCH1 ( DKFZp434C1372,MGC117152,PLCL3 )
Gene Full Name: phospholipase C, eta 1
Band: 3q25.31
Quick LinksEntrez ID:23007; OMIM: 612835; Uniprot ID:PLCH1_HUMAN; ENSEMBL ID: ENSG00000114805; HGNC ID: 29185
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLCH1|23007|nucleotide
ATGGCAGACCTTGAAGTGTATAAAAACTTAAGTCCAGAAAAAGTTGAAAGATGCATGAGTGTGATGCAGTCCGGGACACAGATGATCAAGCTGAAACGTGGAACC
AAAGGGCTTGTCCGCCTCTTTTACCTGGATGAGCACCGGACACGCCTCCGATGGCGACCCTCTAGGAAGAGTGAGAAGGCAAAAATACTTATTGATTCCATTTAC
AAAGTGACTGAGGGCCGGCAGTCTGAAATATTCCACAGACAAGCTGAGGGGAACTTCGACCCCAGCTGCTGCTTCACCATCTACCATGGCAACCACATGGAGTCC
CTGGACCTCATCACCTCCAACCCCGAGGAGGCCCGCACCTGGATCACAGGCCTCAAGTACCTGATGGCTGGCATCAGTGATGAAGACTCCCTTGCCAAAAGGCAG
AGGACCCATGACCAATGGGTGAAGCAGACCTTTGAGGAAGCTGATAAGAATGGTGACGGCTTGCTGAATATTGAAGAGATACATCAGCTGATGCATAAACTGAAT
GTTAATCTGCCCCGAAGAAAAGTCAGACAAATGTTTCAGGAAGCCGACACAGATGAGAATCAGGGAACTTTGACATTTGAAGAGTTCTGTGTTTTTTACAAAATG
ATGTCTTTGAGACGAGACCTTTATTTGTTACTTTTGAGCTACAGTGACAAGAAAGATCACCTAACTGTGGAAGAACTGGCTCAGTTTTTGAAGGTGGAGCAAAAG
ATGAATAATGTGACAACGGACTATTGTCTTGACATCATAAAGAAGTTTGAAGTTTCAGAAGAAAATAAGGTGAAAAATGTTCTTGGCATAGAAGGCTTCACGAAC
TTCATGCGTAGTCCTGCCTGTGACATATTTAACCCATTGCACCATGAAGTGTACCAAGACATGGATCAGCCCCTCTGCAACTACTACATTGCTTCCTCTCACAAT
ACATACCTGACTGGAGACCAGCTCCTTTCTCAGTCCAAAGTGGATATGTATGCACGGGTGCTGCAAGAGGGCTGTCGCTGTGTGGAAGTTGACTGTTGGGATGGC
CCAGATGGAGAGCCAGTAGTACATCATGGTTACACTCTCACTTCAAAAATTCTCTTCAGAGATGTTGTGGAGACCATCAACAAGCATGCCTTTGTGAAGAATGAG
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>PLCH1|23007|protein
MADLEVYKNLSPEKVERCMSVMQSGTQMIKLKRGTKGLVRLFYLDEHRTRLRWRPSRKSEKAKILIDSIYKVTEGRQSEIFHRQAEGNFDPSCCFTIYHGNHMES
LDLITSNPEEARTWITGLKYLMAGISDEDSLAKRQRTHDQWVKQTFEEADKNGDGLLNIEEIHQLMHKLNVNLPRRKVRQMFQEADTDENQGTLTFEEFCVFYKM
MSLRRDLYLLLLSYSDKKDHLTVEELAQFLKVEQKMNNVTTDYCLDIIKKFEVSEENKVKNVLGIEGFTNFMRSPACDIFNPLHHEVYQDMDQPLCNYYIASSHN
TYLTGDQLLSQSKVDMYARVLQEGCRCVEVDCWDGPDGEPVVHHGYTLTSKILFRDVVETINKHAFVKNEFPVILSIENHCSIQQQRKIAQYLKGIFGDKLDLSS
VDTGECKQLPSPQSLKGKILVKGKKLPYHLGDDAEEGEVSDEDSADEIEDECKFKLHYSNGTTEHQVESFIRKKLESLLKESQIRDKEDPDSFTVRALLKATHEG
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top