Evidence Details for SHPRH
Basic Information Top
Gene Symbol: | SHPRH ( FLJ27258,FLJ37625,FLJ45012,FLJ90837,KIAA2023,MGC134886,bA545I5.2 ) |
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Gene Full Name: | SNF2 histone linker PHD RING helicase |
Band: | 6q24.3 |
Quick Links | Entrez 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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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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MSSRRKRAPPVRVDEEKRQQLHWNMHEDRRNEPIIISDDDEQPCPGSDTSSAHYIILSDSLKEEVAHRDKKRCSKVVSFSKPIEKEETVGIFSPLSVKLNIVISP
YHFDNSWKAFLGELTLQLLPAQSLIENFSERSITLMSSESSNQFLIYVHSKGEDVEKQKKEPMSICDKGILVESSFSGEMLEDLGWLQKKRRIKLYQKPEGNHII
KVGIYLLEAGLAKLDFLSDANSRMKKFNQLMKKVMEKLHNSIIPDVLEEDEDDPESEPEGQDIDELYHFVKQTHQQETQSIQVDVQHPALIPVLRPYQREAVNWM
LQQECFRSSPATESALHFLWREIVTSEGLKLYYNPYTGCIIREYPNSGPQLLGGILADEMGLGKTVEVLALILTHTRQDVKQDALTLPEGKVVNYFIPSHYFGGK
LKKTEIQNIEFEPKEKVQCPPTRVMILTAVKEMNGKKGVSILSIYKYVSSIYRYDVQRNRSLLKRMLKCLIFEGLVKQIKGHGFSGTFTLGKNYKEEDICDKTKK
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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