AutismKB 2.0

Evidence Details for PRKCH


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Basic Information Top
Gene Symbol:PRKCH ( MGC26269,MGC5363,PKC-L,PKCL,PRKCL,nPKC-eta )
Gene Full Name: protein kinase C, eta
Band: 14q23.1
Quick LinksEntrez ID:5583; OMIM: 605437; Uniprot ID:KPCL_HUMAN; ENSEMBL ID: ENSG00000027075; HGNC ID: 9403
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRKCH|5583|nucleotide
ATGTCGTCTGGCACCATGAAGTTCAATGGCTATTTGAGGGTCCGCATCGGTGAGGCAGTGGGGCTGCAGCCCACCCGCTGGTCCCTGCGCCACTCGCTCTTCAAG
AAGGGCCACCAGCTGCTGGACCCCTATCTGACGGTGAGCGTGGACCAGGTGCGCGTGGGCCAGACCAGCACCAAGCAGAAGACCAACAAACCCACGTACAACGAG
GAGTTTTGCGCTAACGTCACCGACGGCGGCCACCTCGAGTTGGCCGTCTTCCACGAGACGCCCCTGGGCTACGACCACTTCGTGGCCAACTGCACCCTGCAGTTC
CAGGAGCTGCTGCGCACGACCGGCGCCTCGGACACCTTCGAGGGTTGGGTGGATCTCGAGCCAGAGGGGAAAGTATTTGTGGTAATAACCCTTACCGGGAGTTTC
ACTGAAGCTACTCTCCAGAGAGACCGGATCTTCAAACATTTTACCAGGAAGCGCCAAAGGGCTATGCGAAGGCGAGTCCACCAGATCAATGGACACAAGTTCATG
GCCACGTATCTGAGGCAGCCCACCTACTGCTCTCACTGCAGGGAGTTTATCTGGGGAGTGTTTGGGAAACAGGGTTATCAGTGCCAAGTGTGCACCTGTGTCGTC
CATAAACGCTGCCATCATCTAATTGTTACAGCCTGTACTTGCCAAAACAATATTAACAAAGTGGATTCAAAGATTGCAGAACAGAGGTTCGGGATCAACATCCCA
CACAAGTTCAGCATCCACAACTACAAAGTGCCAACATTCTGCGATCACTGTGGCTCACTGCTCTGGGGAATAATGCGACAAGGACTTCAGTGTAAAATATGTAAA
ATGAATGTGCATATTCGATGTCAAGCGAACGTGGCCCCTAACTGTGGGGTAAATGCGGTGGAACTTGCCAAGACCCTGGCAGGGATGGGTCTCCAACCCGGAAAT
ATTTCTCCAACCTCGAAACTCGTTTCCAGATCGACCCTAAGACGACAGGGAAAGGAGAGCAGCAAAGAAGGAAATGGGATTGGGGTTAATTCTTCCAACCGACTT
GGTATCGACAACTTTGAGTTCATCCGAGTGTTGGGGAAGGGGAGTTTTGGGAAGGTGATGCTTGCAAGAGTAAAAGAAACAGGAGACCTCTATGCTGTGAAGGTG
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>PRKCH|5583|protein
MSSGTMKFNGYLRVRIGEAVGLQPTRWSLRHSLFKKGHQLLDPYLTVSVDQVRVGQTSTKQKTNKPTYNEEFCANVTDGGHLELAVFHETPLGYDHFVANCTLQF
QELLRTTGASDTFEGWVDLEPEGKVFVVITLTGSFTEATLQRDRIFKHFTRKRQRAMRRRVHQINGHKFMATYLRQPTYCSHCREFIWGVFGKQGYQCQVCTCVV
HKRCHHLIVTACTCQNNINKVDSKIAEQRFGINIPHKFSIHNYKVPTFCDHCGSLLWGIMRQGLQCKICKMNVHIRCQANVAPNCGVNAVELAKTLAGMGLQPGN
ISPTSKLVSRSTLRRQGKESSKEGNGIGVNSSNRLGIDNFEFIRVLGKGSFGKVMLARVKETGDLYAVKVLKKDVILQDDDVECTMTEKRILSLARNHPFLTQLF
CCFQTPDRLFFVMEFVNGGDLMFHIQKSRRFDEARARFYAAEIISALMFLHDKGIIYRDLKLDNVLLDHEGHCKLADFGMCKEGICNGVTTATFCGTPDYIAPEI
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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