AutismKB 2.0

Evidence Details for SEMG2


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Basic Information Top
Gene Symbol:SEMG2 ( SGII )
Gene Full Name: semenogelin II
Band: 20q13.12
Quick LinksEntrez ID:6407; OMIM: 182141; Uniprot ID:SEMG2_HUMAN; ENSEMBL ID: ENSG00000124157; HGNC ID: 10743
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SEMG2|6407|nucleotide
ATGAAGTCCATCATCCTCTTTGTCCTTTCCCTGCTCCTTATCTTGGAGAAGCAAGCAGCTGTGATGGGACAAAAAGGTGGATCAAAAGGCCAATTGCCAAGCGGA
TCTTCCCAATTTCCACATGGACAAAAGGGCCAGCACTATTTTGGACAAAAAGACCAACAACATACTAAATCCAAAGGCAGTTTTTCTATTCAACACACATATCAT
GTAGACATCAATGATCATGACTGGACCCGAAAAAGTCAGCAATATGATTTGAATGCCCTACATAAGGCGACAAAATCAAAACAACACCTAGGTGGAAGTCAACAA
CTGCTCAATTATAAACAAGAAGGCAGAGACCATGATAAATCAAAAGGTCATTTTCACATGATAGTTATACATCATAAAGGAGGCCAAGCTCATCATGGGACACAA
AATCCTTCTCAAGATCAGGGGAATAGCCCATCTGGAAAGGGATTATCCAGTCAATGTTCAAACACAGAAAAAAGGCTATGGGTTCATGGACTAAGTAAAGAACAA
GCTTCAGCCTCTGGTGCACAAAAAGGTAGAACACAAGGTGGATCCCAAAGCAGTTATGTTCTCCAAACTGAAGAACTAGTAGTTAACAAACAACAACGTGAGACT
AAAAATTCTCATCAAAATAAAGGGCATTACCAAAATGTGGTTGACGTGAGAGAGGAACATTCAAGTAAACTACAAACTTCACTCCATCCTGCACATCAAGACAGA
CTCCAACATGGACCCAAAGACATTTTTACTACCCAAGATGAGCTCCTAGTATATAACAAGAATCAACACCAGACAAAAAATCTCAGTCAAGATCAAGAGCATGGC
CGGAAGGCACATAAAATATCATACCCGTCTTCACGTACAGAAGAAAGACAACTTCACCATGGAGAAAAGAGTGTACAGAAAGATGTATCCAAAGGCAGCATTTCT
ATCCAAACTGAAGAGAAAATACATGGCAAGTCTCAAAACCAGGTAACAATTCATAGTCAAGATCAAGAGCATGGCCATAAGGAAAATAAAATATCATACCAATCT
TCAAGTACAGAAGAAAGACATCTCAACTGTGGAGAAAAGGGCATCCAGAAAGGTGTATCCAAAGGCAGTATTTCGATCCAAACTGAAGAGCAAATACATGGCAAG
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>SEMG2|6407|protein
MKSIILFVLSLLLILEKQAAVMGQKGGSKGQLPSGSSQFPHGQKGQHYFGQKDQQHTKSKGSFSIQHTYHVDINDHDWTRKSQQYDLNALHKATKSKQHLGGSQQ
LLNYKQEGRDHDKSKGHFHMIVIHHKGGQAHHGTQNPSQDQGNSPSGKGLSSQCSNTEKRLWVHGLSKEQASASGAQKGRTQGGSQSSYVLQTEELVVNKQQRET
KNSHQNKGHYQNVVDVREEHSSKLQTSLHPAHQDRLQHGPKDIFTTQDELLVYNKNQHQTKNLSQDQEHGRKAHKISYPSSRTEERQLHHGEKSVQKDVSKGSIS
IQTEEKIHGKSQNQVTIHSQDQEHGHKENKISYQSSSTEERHLNCGEKGIQKGVSKGSISIQTEEQIHGKSQNQVRIPSQAQEYGHKENKISYQSSSTEERRLNS
GEKDVQKGVSKGSISIQTEEKIHGKSQNQVTIPSQDQEHGHKENKMSYQSSSTEERRLNYGGKSTQKDVSQSSISFQIEKLVEGKSQIQTPNPNQDQWSGQNAKG
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top