AutismKB 2.0

Evidence Details for SPTA1


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Basic Information Top
Gene Symbol:SPTA1 ( EL2,HPP,HS3,SPH3,SPTA )
Gene Full Name: spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
Band: 1q23.1
Quick LinksEntrez ID:6708; OMIM: 182860; Uniprot ID:SPTA1_HUMAN; ENSEMBL ID: ENSG00000163554; HGNC ID: 11272
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPTA1|6708|nucleotide
ATGGAGCAATTTCCAAAGGAAACCGTTGTGGAGAGCAGTGGGCCAAAGGTTTTGGAAACAGCAGAAGAGATCCAGGAGAGGCGTCAGGAAGTGTTGACTCGGTAT
CAAAGTTTCAAGGAGCGGGTCGCTGAGAGGGGTCAGAAGCTTGAGGATTCCTATCACTTACAAGTTTTCAAGCGAGATGCAGATGATCTGGGGAAGTGGATCATG
GAGAAAGTCAATATCTTAACCGATAAGAGCTATGAAGACCCAACTAATATACAGGGGAAATATCAGAAGCATCAATCCCTTGAAGCAGAGGTGCAAACAAAATCA
AGACTCATGTCTGAACTGGAAAAAACAAGGGAAGAACGATTTACCATGGGTCATTCTGCCCACGAAGAAACGAAGGCCCATATAGAGGAGCTACGCCACCTGTGG
GACCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAGTTGCTGCGGGCCCTGAAGTTCCAGCAGTATGTACAGGAGTGTGCTGACATCTTAGAGTGGATTGGA
GACAAGGAGGCTATAGCGACATCAGTGGAGCTAGGTGAAGACTGGGAGCGCACCGAAGTTCTGCATAAGAAATTTGAAGACTTCCAAGTGGAGCTGGTAGCTAAA
GAAGGGAGAGTTGTTGAAGTGAACCAATATGCCAATGAGTGTGCCGAGGAAAACCATCCTGACCTACCCTTAATTCAGTCTAAGCAAAATGAGGTGAATGCTGCC
TGGGAGCGCCTTCGTGGTTTGGCTCTCCAGAGACAGAAAGCTCTGTCCAATGCTGCAAACTTACAACGATTCAAAAGGGATGTGACTGAAGCCATCCAGTGGATC
AAGGAGAAGGAACCTGTACTCACCTCTGAGGACTATGGCAAAGACCTTGTTGCCTCTGAAGGACTGTTTCACAGTCACAAGGGACTTGAGAGAAATCTTGCTGTC
ATGAGTGACAAGGTGAAGGAGTTATGTGCTAAAGCAGAGAAGCTGACACTTTCCCATCCTTCAGATGCACCTCAGATCCAGGAGATGAAAGAAGATCTGGTCTCC
AGCTGGGAGCATATTCGTGCCCTGGCCACCAGCAGATATGAAAAACTGCAGGCTACTTATTGGTACCATCGATTTTCATCTGACTTTGATGAACTCTCAGGCTGG
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>SPTA1|6708|protein
MEQFPKETVVESSGPKVLETAEEIQERRQEVLTRYQSFKERVAERGQKLEDSYHLQVFKRDADDLGKWIMEKVNILTDKSYEDPTNIQGKYQKHQSLEAEVQTKS
RLMSELEKTREERFTMGHSAHEETKAHIEELRHLWDLLLELTLEKGDQLLRALKFQQYVQECADILEWIGDKEAIATSVELGEDWERTEVLHKKFEDFQVELVAK
EGRVVEVNQYANECAEENHPDLPLIQSKQNEVNAAWERLRGLALQRQKALSNAANLQRFKRDVTEAIQWIKEKEPVLTSEDYGKDLVASEGLFHSHKGLERNLAV
MSDKVKELCAKAEKLTLSHPSDAPQIQEMKEDLVSSWEHIRALATSRYEKLQATYWYHRFSSDFDELSGWMNEKTAAINADELPTDVAGGEVLLDRHQQHKHEID
SYDDRFQSADETGQDLVNANHEASDEVREKMEILDNNWTALLELWDERHRQYEQCLDFHLFYRDSEQVDSWMSRQEAFLENEDLGNSLGSAEALLQKHEDFEEAF
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top