Evidence Details for STAMBP
Basic Information Top
Gene Symbol: | STAMBP ( AMSH,MGC126516,MGC126518 ) |
---|---|
Gene Full Name: | STAM binding protein |
Band: | 2p13.1 |
Quick Links | Entrez ID:10617; OMIM: 606247; Uniprot ID:STABP_HUMAN; ENSEMBL ID: ENSG00000124356; HGNC ID: 16950 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>STAMBP|10617|nucleotide
ATGTCTGACCATGGAGATGTGAGCCTCCCGCCCGAAGACCGGGTGAGGGCTCTCTCCCAGCTGGGTAGTGCGGTAGAGGTGAATGAAGACATTCCACCCCGTCGG
TACTTCCGCTCTGGAGTTGAGATTATCCGAATGGCATCCATTTACTCTGAGGAAGGCAACATTGAACATGCCTTCATCCTCTATAACAAGTATATCACGCTCTTT
ATTGAGAAACTACCAAAACATCGAGATTACAAATCTGCTGTCATTCCTGAAAAGAAAGACACAGTAAAGAAATTAAAGGAGATTGCATTTCCCAAAGCAGAAGAG
CTGAAGGCAGAGCTGTTAAAACGATATACCAAAGAATATACAGAATATAATGAAGAAAAGAAGAAGGAAGCAGAGGAATTGGCCCGGAACATGGCCATCCAGCAA
GAGCTGGAAAAGGAAAAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAA
AAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACC
TTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTCCTTGAAACCTGGAGCACTGAGCAACTCA
GAAAGTATTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAG
ACATGTGGAATTCTCTGTGGAAAACTGATGAGGAATGAATTTACCATTACCCATGTTCTCATCCCCAAGCAAAGTGCTGGGTCTGATTACTGCAACACAGAGAAC
GAAGAAGAACTTTTCCTCATACAGGATCAGCAGGGCCTCATCACACTGGGCTGGATTCATACTCACCCCACACAGACCGCGTTTCTCTCCAGTGTCGACCTACAC
ACTCACTGCTCTTACCAGATGATGTTGCCAGAGTCAGTAGCCATTGTTTGCTCCCCCAAGTTCCAGGAAACTGGATTCTTTAAACTAACTGACCATGGACTAGAG
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ATGTCTGACCATGGAGATGTGAGCCTCCCGCCCGAAGACCGGGTGAGGGCTCTCTCCCAGCTGGGTAGTGCGGTAGAGGTGAATGAAGACATTCCACCCCGTCGG
TACTTCCGCTCTGGAGTTGAGATTATCCGAATGGCATCCATTTACTCTGAGGAAGGCAACATTGAACATGCCTTCATCCTCTATAACAAGTATATCACGCTCTTT
ATTGAGAAACTACCAAAACATCGAGATTACAAATCTGCTGTCATTCCTGAAAAGAAAGACACAGTAAAGAAATTAAAGGAGATTGCATTTCCCAAAGCAGAAGAG
CTGAAGGCAGAGCTGTTAAAACGATATACCAAAGAATATACAGAATATAATGAAGAAAAGAAGAAGGAAGCAGAGGAATTGGCCCGGAACATGGCCATCCAGCAA
GAGCTGGAAAAGGAAAAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAA
AAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACC
TTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTCCTTGAAACCTGGAGCACTGAGCAACTCA
GAAAGTATTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAG
ACATGTGGAATTCTCTGTGGAAAACTGATGAGGAATGAATTTACCATTACCCATGTTCTCATCCCCAAGCAAAGTGCTGGGTCTGATTACTGCAACACAGAGAAC
GAAGAAGAACTTTTCCTCATACAGGATCAGCAGGGCCTCATCACACTGGGCTGGATTCATACTCACCCCACACAGACCGCGTTTCTCTCCAGTGTCGACCTACAC
ACTCACTGCTCTTACCAGATGATGTTGCCAGAGTCAGTAGCCATTGTTTGCTCCCCCAAGTTCCAGGAAACTGGATTCTTTAAACTAACTGACCATGGACTAGAG
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>STAMBP|10617|protein
MSDHGDVSLPPEDRVRALSQLGSAVEVNEDIPPRRYFRSGVEIIRMASIYSEEGNIEHAFILYNKYITLFIEKLPKHRDYKSAVIPEKKDTVKKLKEIAFPKAEE
LKAELLKRYTKEYTEYNEEKKKEAEELARNMAIQQELEKEKQRVAQQKQQQLEQEQFHAFEEMIRNQELEKERLKIVQEFGKVDPGLGGPLVPDLEKPSLDVFPT
LTVSSIQPSDCHTTVRPAKPPVVDRSLKPGALSNSESIPTIDGLRHVVVPGRLCPQFLQLASANTARGVETCGILCGKLMRNEFTITHVLIPKQSAGSDYCNTEN
EEELFLIQDQQGLITLGWIHTHPTQTAFLSSVDLHTHCSYQMMLPESVAIVCSPKFQETGFFKLTDHGLEEISSCRQKGFHPHSKDPPLFCSCSHVTVVDRAVTI
TDLR
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MSDHGDVSLPPEDRVRALSQLGSAVEVNEDIPPRRYFRSGVEIIRMASIYSEEGNIEHAFILYNKYITLFIEKLPKHRDYKSAVIPEKKDTVKKLKEIAFPKAEE
LKAELLKRYTKEYTEYNEEKKKEAEELARNMAIQQELEKEKQRVAQQKQQQLEQEQFHAFEEMIRNQELEKERLKIVQEFGKVDPGLGGPLVPDLEKPSLDVFPT
LTVSSIQPSDCHTTVRPAKPPVVDRSLKPGALSNSESIPTIDGLRHVVVPGRLCPQFLQLASANTARGVETCGILCGKLMRNEFTITHVLIPKQSAGSDYCNTEN
EEELFLIQDQQGLITLGWIHTHPTQTAFLSSVDLHTHCSYQMMLPESVAIVCSPKFQETGFFKLTDHGLEEISSCRQKGFHPHSKDPPLFCSCSHVTVVDRAVTI
TDLR
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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
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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