AutismKB 2.0

Evidence Details for TBXAS1


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Basic Information Top
Gene Symbol:TBXAS1 ( CYP5,CYP5A1,FLJ52771,GHOSAL,THAS,TS,TXAS,TXS )
Gene Full Name: thromboxane A synthase 1 (platelet)
Band: 7q34
Quick LinksEntrez ID:6916; OMIM: 274180; Uniprot ID:THAS_HUMAN; ENSEMBL ID: ENSG00000059377; HGNC ID: 11609
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBXAS1|6916|nucleotide
ATGATGGAAGCCTTGGGGTTTCTAAAATTGGAAGTGAATGGCCCCATGGTGACGGTGGCCCTGTCAGTGGCTCTCTTGGCCCTCCTGAAATGGTACTCCACATCA
GCATTCTCAAGACTGGAGAAGTTAGGCCTCAGACATCCCAAGCCTTCTCCTTTCATTGGAAACTTGACATTTTTCCGCCAGGGTTTTTGGGAAAGCCAAATGGAG
CTCAGAAAGCTGTATGGACCTCTGTGTGGGTACTATCTTGGTCGTCGGATGTTTATTGTTATTTCTGAGCCAGACATGATCAAGCAGGTGTTGGTTGAGAACTTC
AGTAACTTTACCAACAGAATGGCGTCGGGTTTGGAGTTCAAGTCGGTAGCCGACAGCGTTCTGTTTTTACGTGACAAAAGATGGGAAGAGGTCAGAGGTGCCCTG
ATGTCTGCTTTCAGTCCTGAAAAGCTGAACGAGATGGTTCCCCTCATCAGCCAAGCCTGCGACCTTCTCCTGGCTCATTTAAAACGCTATGCGGAATCTGGGGAC
GCATTTGACATCCAGAGGTGCTACTGCAATTACACCACAGATGTGGTTGCCAGCGTCGCCTTTGGCACCCCGGTGGACTCCTGGCAGGCCCCTGAGGATCCCTTT
GTGAAACACTGCAAGCGTTTCTTCGAATTCTGCATCCCCAGACCTATCCTGGTTTTACTCTTATCATTTCCATCCATAATGGTCCCACTGGCCCGGATTTTGCCC
AATAAGAACCGAGACGAACTGAATGGCTTTTTTAACAAACTCATTAGGAATGTGATTGCCTTGCGGGACCAGCAAGCTGCCGAAGAGAGGCGGAGAGACTTCCTC
CAAATGGTCCTGGATGCCCGACATTCTGCAAGTCCCATGGGCGTGCAAGACTTTGACATCGTCAGAGACGTTTTCTCCTCTACTGGGTGCAAGCCGAACCCTTCC
CGGCAACACCAGCCCAGCCCTATGGCCAGGCCTTTGACTGTGGATGAGATTGTGGGCCAGGCCTTCATCTTCCTCATCGCTGGCTATGAAATCATCACCAACACA
CTTTCTTTTGCCACCTACCTACTGGCCACCAACCCTGACTGCCAAGAGAAGCTTCTGAGAGAGGTAGACGTTTTTAAGGAGAAACACATGGCCCCTGAGTTCTGC
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>TBXAS1|6916|protein
MMEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGYYLGRRMFIVISEPDMIKQVLVENF
SNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPF
VKHCKRFFEFCIPRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPS
RQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCE
VLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKN
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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