AutismKB 2.0

Evidence Details for STXBP3


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Basic Information Top
Gene Symbol:STXBP3 ( MUNC18-3,MUNC18C,PSP,UNC-18C )
Gene Full Name: syntaxin binding protein 3
Band: 1p13.3
Quick LinksEntrez ID:6814; OMIM: 608339; Uniprot ID:STXB3_HUMAN; ENSEMBL ID: ENSG00000116266; HGNC ID: 11446
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STXBP3|6814|nucleotide
ATGGCGCCGCCGGTGGCAGAGAGGGGGCTAAAGAGCGTCGTGTGGCAGAAGATAAAAGCAACAGTGTTTGATGACTGCAAGAAAGAAGGCGAATGGAAGATAATG
CTTTTAGATGAATTTACCACTAAGCTTTTGGCATCGTGTTGCAAAATGACAGATCTTCTAGAAGAAGGTATTACTGTTGTAGAGAATATTTATAAGAACCGTGAA
CCTGTCAGACAAATGAAAGCTCTTTATTTCATCACTCCGACATCAAAGTCTGTAGATTGTTTCTTACATGATTTTGCAAGTAAATCGGAGAACAAGTATAAAGCA
GCATATATTTACTTCACTGACTTTTGCCCTGATAATCTCTTTAACAAAATTAAGGCTTCTTGCTCCAAGTCAATAAGAAGATGTAAAGAAATAAATATTTCCTTC
ATTCCACATGAATCTCAGGTGTATACTCTTGATGTACCAGATGCATTCTATTACTGTTATAGTCCAGACCCTGGTAATGCAAAGGGAAAAGATGCCATTATGGAA
ACAATGGCTGACCAGATAGTTACAGTGTGTGCCACCTTGGATGAAAATCCCGGAGTAAGATATAAAAGTAAACCTCTAGATAATGCCAGTAAGCTTGCACAGCTT
GTTGAAAAAAAGCTTGAAGACTACTACAAGATTGATGAAAAGAGCCTAATAAAGGGTAAAACTCATTCACAGCTCTTAATAATTGATCGTGGCTTTGATCCTGTG
TCCACTGTCCTGCATGAACTGACCTTTCAGGCAATGGCATATGATCTACTACCAATTGAGAATGATACATACAAATATAAAACAGATGGAAAAGAAAAGGAGGCC
ATCCTTGAAGAAGAAGATGACCTCTGGGTTAGAATTCGACATCGACATATTGCGGTTGTGTTAGAGGAAATTCCCAAGCTTATGAAAGAAATTTCATCAACAAAG
AAAGCAACAGAAGGAAAGACATCACTTAGTGCTCTTACCCAGCTGATGAAAAAGATGCCCCATTTCCGAAAACAGATTACTAAGCAAGTTGTCCATCTTAACTTA
GCAGAAGATTGCATGAATAAGTTCAAGCTTAATATAGAAAAGCTCTGCAAAACTGAACAGGACCTGGCACTTGGAACTGATGCAGAAGGACAGAAGGTGAAAGAT
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>STXBP3|6814|protein
MAPPVAERGLKSVVWQKIKATVFDDCKKEGEWKIMLLDEFTTKLLASCCKMTDLLEEGITVVENIYKNREPVRQMKALYFITPTSKSVDCFLHDFASKSENKYKA
AYIYFTDFCPDNLFNKIKASCSKSIRRCKEINISFIPHESQVYTLDVPDAFYYCYSPDPGNAKGKDAIMETMADQIVTVCATLDENPGVRYKSKPLDNASKLAQL
VEKKLEDYYKIDEKSLIKGKTHSQLLIIDRGFDPVSTVLHELTFQAMAYDLLPIENDTYKYKTDGKEKEAILEEEDDLWVRIRHRHIAVVLEEIPKLMKEISSTK
KATEGKTSLSALTQLMKKMPHFRKQITKQVVHLNLAEDCMNKFKLNIEKLCKTEQDLALGTDAEGQKVKDSMRVLLPVLLNKNHDNCDKIRAILLYIFSINGTTE
ENLDRLIQNVKIENESDMIRNWSYLGVPIVPQSQQGKPLRKDRSAEETFQLSRWTPFIKDIMEDAIDNRLDSKEWPYCSQCPAVWNGSGAVSARQKPRANYLEDR
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top