AutismKB 2.0

Evidence Details for SHPRH


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Basic Information Top
Gene Symbol:SHPRH ( FLJ27258,FLJ37625,FLJ45012,FLJ90837,KIAA2023,MGC134886,bA545I5.2 )
Gene Full Name: SNF2 histone linker PHD RING helicase
Band: 6q24.3
Quick LinksEntrez ID:257218; OMIM: 608048; Uniprot ID:SHPRH_HUMAN; ENSEMBL ID: ENSG00000146414; HGNC ID: 19336
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SHPRH|257218|nucleotide
ATGAGCAGCCGACGGAAACGTGCTCCTCCAGTGAGGGTAGATGAGGAAAAGAGGCAGCAGCTTCATTGGAATATGCATGAGGACAGAAGGAATGAACCTATCATC
ATAAGTGATGATGACGAGCAGCCCTGCCCAGGTTCAGATACCTCTTCTGCTCATTATATCATTCTAAGTGATAGTCTAAAGGAAGAAGTGGCTCACAGAGATAAG
AAGAGGTGTTCAAAAGTGGTGAGCTTCTCAAAACCAATTGAAAAAGAAGAGACTGTTGGTATTTTTTCCCCTTTGTCTGTAAAGTTAAATATTGTGATTTCTCCC
TATCATTTTGATAATTCCTGGAAAGCATTTCTAGGAGAATTAACTCTTCAGCTTCTTCCTGCACAGAGTTTAATTGAAAATTTTTCCGAAAGGAGTATTACATTG
ATGAGTTCAGAGTCAAGCAATCAGTTCCTGATTTATGTTCATTCAAAAGGTGAAGATGTAGAGAAACAAAAAAAAGAACCGATGAGTATTTGTGACAAGGGTATT
CTGGTGGAGTCATCCTTCAGTGGTGAAATGTTAGAAGATTTGGGGTGGCTACAAAAGAAGAGAAGAATAAAACTCTATCAGAAACCAGAAGGAAATCACATTATC
AAGGTTGGAATTTATCTTTTGGAAGCTGGCCTAGCAAAACTAGACTTCTTGAGTGATGCAAATTCAAGAATGAAAAAGTTCAATCAGCTCATGAAGAAAGTAATG
GAAAAGTTACACAATTCTATTATTCCAGATGTGTTGGAAGAGGATGAAGATGATCCGGAGAGTGAGCCAGAGGGACAAGACATTGACGAGCTGTATCACTTTGTG
AAACAAACACATCAGCAAGAAACGCAGTCCATCCAAGTGGATGTCCAGCATCCTGCATTGATCCCTGTGTTGAGACCCTACCAAAGAGAGGCTGTCAATTGGATG
CTACAACAAGAGTGTTTCAGAAGCAGTCCTGCTACTGAAAGTGCCCTGCACTTCTTATGGCGAGAGATTGTTACATCTGAGGGTCTGAAACTCTACTATAATCCA
TATACAGGCTGCATCATTCGTGAGTACCCAAATTCTGGGCCGCAGTTGCTTGGTGGAATTTTAGCAGATGAGATGGGTCTTGGAAAGACAGTGGAGGTTTTGGCT
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>SHPRH|257218|protein
MSSRRKRAPPVRVDEEKRQQLHWNMHEDRRNEPIIISDDDEQPCPGSDTSSAHYIILSDSLKEEVAHRDKKRCSKVVSFSKPIEKEETVGIFSPLSVKLNIVISP
YHFDNSWKAFLGELTLQLLPAQSLIENFSERSITLMSSESSNQFLIYVHSKGEDVEKQKKEPMSICDKGILVESSFSGEMLEDLGWLQKKRRIKLYQKPEGNHII
KVGIYLLEAGLAKLDFLSDANSRMKKFNQLMKKVMEKLHNSIIPDVLEEDEDDPESEPEGQDIDELYHFVKQTHQQETQSIQVDVQHPALIPVLRPYQREAVNWM
LQQECFRSSPATESALHFLWREIVTSEGLKLYYNPYTGCIIREYPNSGPQLLGGILADEMGLGKTVEVLALILTHTRQDVKQDALTLPEGKVVNYFIPSHYFGGK
LKKTEIQNIEFEPKEKVQCPPTRVMILTAVKEMNGKKGVSILSIYKYVSSIYRYDVQRNRSLLKRMLKCLIFEGLVKQIKGHGFSGTFTLGKNYKEEDICDKTKK
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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 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top