AutismKB 2.0

Evidence Details for STAMBP


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Basic Information Top
Gene Symbol:STAMBP ( AMSH,MGC126516,MGC126518 )
Gene Full Name: STAM binding protein
Band: 2p13.1
Quick LinksEntrez 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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>STAMBP|10617|protein
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