Evidence Details for SPTA1
Basic Information Top
Gene Symbol: | SPTA1 ( EL2,HPP,HS3,SPH3,SPTA ) |
---|---|
Gene Full Name: | spectrin, alpha, erythrocytic 1 (elliptocytosis 2) |
Band: | 1q23.1 |
Quick Links | Entrez 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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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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MEQFPKETVVESSGPKVLETAEEIQERRQEVLTRYQSFKERVAERGQKLEDSYHLQVFKRDADDLGKWIMEKVNILTDKSYEDPTNIQGKYQKHQSLEAEVQTKS
RLMSELEKTREERFTMGHSAHEETKAHIEELRHLWDLLLELTLEKGDQLLRALKFQQYVQECADILEWIGDKEAIATSVELGEDWERTEVLHKKFEDFQVELVAK
EGRVVEVNQYANECAEENHPDLPLIQSKQNEVNAAWERLRGLALQRQKALSNAANLQRFKRDVTEAIQWIKEKEPVLTSEDYGKDLVASEGLFHSHKGLERNLAV
MSDKVKELCAKAEKLTLSHPSDAPQIQEMKEDLVSSWEHIRALATSRYEKLQATYWYHRFSSDFDELSGWMNEKTAAINADELPTDVAGGEVLLDRHQQHKHEID
SYDDRFQSADETGQDLVNANHEASDEVREKMEILDNNWTALLELWDERHRQYEQCLDFHLFYRDSEQVDSWMSRQEAFLENEDLGNSLGSAEALLQKHEDFEEAF
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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