AutismKB 2.0

Evidence Details for SAE1


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Basic Information Top
Gene Symbol:SAE1 ( AOS1,FLJ3091,HSPC140,SUA1,UBLE1A )
Gene Full Name: SUMO1 activating enzyme subunit 1
Band: 19q13.32
Quick LinksEntrez ID:10055; OMIM: 613294; Uniprot ID:SAE1_HUMAN; ENSEMBL ID: ENSG00000142230; HGNC ID: 30660
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SAE1|10055|nucleotide
ATGGTGGAGAAGGAGGAGGCTGGCGGCGGCATTAGCGAGGAGGAGGCGGCACAGTATGACCGGCAGATCCGCCTGTGGGGACTGGAGGCCCAGAAACGGCTGCGG
GCCTCTCGGGTGCTTCTTGTCGGCTTGAAAGGACTTGGGGCTGAAATTGCCAAGAATCTCATCTTGGCAGGAGTGAAAGGACTGACCATGCTGGATCACGAACAG
GTAACTCCAGAAGATCCCGGAGCTCAGTTCTTGATTCGTACTGGGTCTGTTGGCCGAAATAGGGCTGAAGCCTCTTTGGAGCGAGCTCAGAATCTCAACCCCATG
GTGGATGTGAAGGTGGACACTGAGGATATAGAGAAGAAACCAGAGTCATTTTTCACTCAATTCGATGCTGTGTGTCTGACTTGCTGCTCCAGGGATGTCATAGTT
AAAGTTGACCAGATCTGTCACAAAAATAGCATCAAGTTCTTTACAGGAGATGTTTTTGGCTACCATGGATACACATTTGCCAATCTAGGAGAGCATGAGTTTGTA
GAGGAGAAAACTAAAGTTGCCAAAGTTAGCCAAGGAGTAGAAGATGGGCCCGACACCAAGAGAGCAAAACTTGATTCTTCTGAGACAACGATGGTCAAAAAGAAG
GTGGTCTTCTGCCCTGTTAAAGAAGCCCTGGAGGTGGACTGGAGCAGTGAGAAAGCAAAGGCTGCTCTGAAGCGCACGACCTCCGACTACTTTCTCCTTCAAGGC
CCTGTCTCAGCGGGACCCTCCTCACAACAACTTCTTCTTCTTCGATGGCATGAAGGGGAATGGGATTGTGGAGTGCCTTGGCCCCAAGTGAACTCAAGATTTGGC
AGCCCCAGAGATGCCAACTGCAGCATGCCCACCTGTATTCCCTGTCCCCTTCCTTCATGA


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>SAE1|10055|protein
MVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKGLTMLDHEQVTPEDPGAQFLIRTGSVGRNRAEASLERAQNLNPM
VDVKVDTEDIEKKPESFFTQFDAVCLTCCSRDVIVKVDQICHKNSIKFFTGDVFGYHGYTFANLGEHEFVEEKTKVAKVSQGVEDGPDTKRAKLDSSETTMVKKK
VVFCPVKEALEVDWSSEKAKAALKRTTSDYFLLQGPVSAGPSSQQLLLLRWHEGEWDCGVPWPQVNSRFGSPRDANCSMPTCIPCPLPS


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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