AutismKB 2.0

Evidence Details for SH3D19


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Basic Information Top
Gene Symbol:SH3D19 ( EBP,EVE1,Kryn,MGC105136,MGC118910,MGC118911,MGC118912,MGC118913,SH3P19 )
Gene Full Name: SH3 domain containing 19
Band: 4q31.3
Quick LinksEntrez ID:152503; OMIM: 608674; Uniprot ID:SH319_HUMAN; ENSEMBL ID: ENSG00000109686; HGNC ID: 30418
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SH3D19|152503|nucleotide
ATGAACATTATGAACACAGAACAAAGCCAAAATAGTATTGTTTCCAGAATTAAAGTGTTTGAGGGTCAGACAAACATAGAAACCTCAGGACTGCCCAAGAAACCA
GAAATTACTCCACGTTCACTTCCTCCAAAGCCTACTGTTTCCTCAGGGAAACCTTCTGTAGCTCCCAAACCAGCTGCTAACAGAGCTTCTGGAGAGTGGGACTCT
GGGACTGAGAACAGACTCAAGGTGACCTCCAAGGAAGGACTCACCCCATACCCTCCCCTGCAAGAAGCGGGAAGCATCCCAGTAACCAAACCTGAATTGCCAAAG
AAACCAAACCCTGGCCTTATACGAAGTGTTAATCCTGAGATTCCGGGAAGAGGGCCCCTGGCTGAGAGCTCTGATAGTGGGAAGAAAGTGCCAACTCCTGCCCCG
CGGCCTTTGCTGCTGAAGAAATCTGTTTCCTCAGAAAACCCCACCTACCCTTCAGCTCCACTGAAACCTGTCACTGTTCCTCCCCGACTCGCAGGGGCATCACAA
GCCAAAGCATACAAGTCACTGGGAGAAGGGCCCCCAGCCAACCCCCCAGTTCCAGTTCTGCAGAGCAAGCCCTTGGTGGACATCGATCTCATCAGCTTTGATGAT
GATGTTTTGCCCACCCCATCGGGGAACCTGGCTGAAGAATCTGTTGGTTCAGAGATGGTTCTAGATCCCTTTCAGCTCCCTGCAAAAACAGAACCAATAAAAGAA
CGAGCAGTTCAACCAGCACCCACCAGGAAGCCCACTGTAATTCGAATTCCAGCCAAACCAGGAAAATGTTTACATGAGGATCCACAAAGTCCACCTCCTCTCCCT
GCTGAAAAACCTATTGGAAACACTTTCAGTACAGTATCTGGAAAGCTCAGTAATGTTGAGAGAACTAGAAACTTGGAATCCAACCACCCAGGTCAAACAGGAGGT
TTTGTGCGAGTACCCCCAAGGTTGCCACCGAGACCTGTGAATGGAAAAACCATTCCAACTCAACAGCCTCCAACCAAGGTGCCCCCTGAGAGACCACCTCCCCCA
AAGCTTTCTGCAACCAGAAGATCTAATAAGAAACTGCCTTTTAATCGATCCTCTTCTGACATGGATCTTCAGAAAAAACAAAGTAACTTGGCAACTGGACTCTCA
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>SH3D19|152503|protein
MNIMNTEQSQNSIVSRIKVFEGQTNIETSGLPKKPEITPRSLPPKPTVSSGKPSVAPKPAANRASGEWDSGTENRLKVTSKEGLTPYPPLQEAGSIPVTKPELPK
KPNPGLIRSVNPEIPGRGPLAESSDSGKKVPTPAPRPLLLKKSVSSENPTYPSAPLKPVTVPPRLAGASQAKAYKSLGEGPPANPPVPVLQSKPLVDIDLISFDD
DVLPTPSGNLAEESVGSEMVLDPFQLPAKTEPIKERAVQPAPTRKPTVIRIPAKPGKCLHEDPQSPPPLPAEKPIGNTFSTVSGKLSNVERTRNLESNHPGQTGG
FVRVPPRLPPRPVNGKTIPTQQPPTKVPPERPPPPKLSATRRSNKKLPFNRSSSDMDLQKKQSNLATGLSKAKSQVFKNQDPVLPPRPKPGHPLYSKYMLSVPHG
IANEDIVSQNPGELSCKRGDVLVMLKQTENNYLECQKGEDTGRVHLSQMKIITPLDEHLRSRPNDPSHAQKPVDSGAPHAVVLHDFPAEQVDDLNLTSGEIVYLL
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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) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top