AutismKB 2.0

Evidence Details for SASH1


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Basic Information Top
Gene Symbol:SASH1 ( KIAA0790,RP3-323M4.1,SH3D6A,dJ323M4,dJ323M4.1 )
Gene Full Name: SAM and SH3 domain containing 1
Band: 6q24.3-q25.1
Quick LinksEntrez ID:23328; OMIM: 607955; Uniprot ID:SASH1_HUMAN; ENSEMBL ID: ENSG00000111961; HGNC ID: 19182
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SASH1|23328|nucleotide
ATGGAGGACGCGGGAGCAGCTGGCCCGGGGCCGGAGCCTGAGCCCGAGCCCGAGCCGGAGCCCGAGCCCGCGCCGGAGCCGGAACCGGAGCCCAAGCCGGGTGCT
GGCACATCCGAGGCGTTCTCCCGACTCTGGACCGACGTGATGGGTATCCTGGACGGTTCACTGGGAAACATCGATGACCTGGCGCAGCAGTATGCAGATTATTAC
AACACCTGTTTCTCCGACGTGTGCGAGAGGATGGAGGAGCTGCGGAAACGGCGGGTTTCCCAGGACCTGGAAGTGGAGAAACCCGATGCTAGCCCCACGTCACTT
CAGCTGCGGTCCCAGATCGAAGAGTCGCTTGGCTTCTGTAGCGCCGTGTCAACCCCAGAAGTGGAAAGAAAGAACCCTCTTCATAAATCAAACTCAGAAGACAGC
TCTGTAGGAAAAGGAGACTGGAAGAAGAAAAATAAGTATTTCTGGCAGAACTTCCGAAAGAACCAGAAAGGAATAATGAGACAGACTTCAAAAGGAGAAGACGTT
GGTTATGTTGCCAGTGAAATAACGATGAGCGATGAGGAGCGGATTCAGCTAATGATGATGGTCAAAGAAAAGATGATCACAATTGAGGAAGCACTTGCTAGGCTC
AAGGAATACGAGGCCCAGCACCGGCAGTCGGCTGCCCTGGACCCTGCTGACTGGCCAGATGGTTCTTACCCAACGTTTGATGGCTCATCAAACTGCAATTCAAGA
GAACAATCGGATGATGAGACTGAGGAGTCGGTGAAGTTTAAGAGGTTACACAAGCTGGTAAACTCCACTCGCAGAGTCAGAAAGAAACTAATTAGGGTGGAAGAA
ATGAAAAAACCCAGCACTGAAGGTGGGGAGGAGCACGTGTTTGAGAATTCGCCGGTCCTGGATGAACGGTCCGCCCTCTACTCTGGCGTGCACAAGAAGCCCCTT
TTCTTTGATGGCTCTCCTGAGAAACCTCCCGAAGATGACTCAGACTCTCTCACCACGTCTCCATCCTCCAGCAGCCTGGACACCTGGGGGGCTGGCCGGAAGTTG
GTCAAAACCTTCAGCAAAGGAGAGAGCCGGGGCCTGATTAAGCCCCCCAAGAAGATGGGGACATTCTTCTCCTACCCAGAAGAAGAAAAGGCCCAGAAAGTGTCC
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>SASH1|23328|protein
MEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSL
QLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARL
KEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPL
FFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHV
GSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQT
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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 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top