AutismKB 2.0

Evidence Details for SEMG1


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Basic Information Top
Gene Symbol:SEMG1 ( CT103,FLJ78262,MGC14719,SEMG,SGI,dJ172H20.2 )
Gene Full Name: semenogelin I
Band: 20q13.12
Quick LinksEntrez ID:6406; OMIM: 182140; Uniprot ID:SEMG1_HUMAN; ENSEMBL ID: ENSG00000124233; HGNC ID: 10742
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SEMG1|6406|nucleotide
ATGAAGCCCAACATCATCTTTGTACTTTCCCTGCTCCTCATCTTGGAGAAGCAAGCAGCTGTGATGGGACAAAAAGGTGGATCAAAAGGCCGATTACCAAGTGAA
TTTTCCCAATTTCCACACGGACAAAAGGGCCAGCACTATTCTGGACAAAAAGGCAAGCAACAAACTGAATCCAAAGGCAGTTTTTCTATTCAATACACATATCAT
GTAGATGCCAATGATCATGACCAGTCCCGAAAAAGTCAGCAATATGATTTGAATGCCCTACATAAGACGACAAAATCACAACGACATCTAGGTGGAAGTCAACAA
CTGCTCCATAATAAACAAGAAGGCAGAGACCATGATAAATCAAAAGGTCATTTTCACAGGGTAGTTATACACCATAAAGGAGGCAAAGCTCATCGTGGGACACAA
AATCCTTCTCAAGATCAGGGGAATAGCCCATCTGGAAAGGGAATATCCAGTCAATATTCAAACACAGAAGAAAGGCTGTGGGTTCATGGACTAAGTAAAGAACAA
ACTTCCGTCTCTGGTGCACAAAAAGGTAGAAAACAAGGCGGATCCCAAAGCAGTTATGTTCTCCAAACTGAAGAGCTAGTAGCTAACAAACAACAACGTGAGACT
AAAAATTCTCATCAAAATAAAGGGCATTACCAAAATGTGGTTGAAGTGAGAGAGGAACATTCAAGTAAAGTACAAACCTCACTCTGTCCTGCGCACCAAGACAAA
CTCCAACATGGATCCAAAGACATTTTTTCTACCCAAGATGAGCTCCTAGTATATAACAAGAATCAACACCAGACAAAAAATCTCAATCAAGATCAACAGCATGGC
CGAAAGGCAAATAAAATATCATACCAATCTTCAAGTACAGAAGAAAGACGACTCCACTATGGAGAAAATGGTGTGCAGAAAGATGTATCCCAAAGCAGTATTTAT
AGCCAAACTGAAGAGAAAGCACAGGGCAAGTCTCAAAAACAGATAACAATTCCCAGTCAAGAGCAAGAGCATAGCCAAAAGGCAAATAAAATATCATACCAATCT
TCAAGTACGGAAGAAAGACGACTCCACTATGGAGAAAATGGTGTGCAGAAAGATGTATCCCAACGCAGTATTTATAGCCAAACTGAAAAGCTAGTAGCAGGCAAG
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>SEMG1|6406|protein
MKPNIIFVLSLLLILEKQAAVMGQKGGSKGRLPSEFSQFPHGQKGQHYSGQKGKQQTESKGSFSIQYTYHVDANDHDQSRKSQQYDLNALHKTTKSQRHLGGSQQ
LLHNKQEGRDHDKSKGHFHRVVIHHKGGKAHRGTQNPSQDQGNSPSGKGISSQYSNTEERLWVHGLSKEQTSVSGAQKGRKQGGSQSSYVLQTEELVANKQQRET
KNSHQNKGHYQNVVEVREEHSSKVQTSLCPAHQDKLQHGSKDIFSTQDELLVYNKNQHQTKNLNQDQQHGRKANKISYQSSSTEERRLHYGENGVQKDVSQSSIY
SQTEEKAQGKSQKQITIPSQEQEHSQKANKISYQSSSTEERRLHYGENGVQKDVSQRSIYSQTEKLVAGKSQIQAPNPKQEPWHGENAKGESGQSTNREQDLLSH
EQKGRHQHGSHGGLDIVIIEQEDDSDRHLAQHLNNDRNPLFT
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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