Evidence Details for SP1
Basic Information Top
| Gene Symbol: | SP1 ( - ) |
|---|---|
| Gene Full Name: | Sp1 transcription factor |
| Band: | 12q13.13 |
| Quick Links | Entrez ID:6667; OMIM: 189906; Uniprot ID:SP1_HUMAN; ENSEMBL ID: ENSG00000185591; HGNC ID: 11205 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SP1|6667|nucleotide
ATGGATGAAATGACAGCTGTGGTGAAAATTGAAAAAGGAGTTGGTGGCAATAATGGGGGCAATGGTAATGGTGGTGGTGCCTTTTCACAGGCTCGAAGTAGCAGC
ACAGGCAGTAGCAGCAGCACTGGAGGAGGAGGGCAGGAGTCCCAGCCATCCCCTTTGGCTCTGCTGGCAGCAACTTGCAGCAGAATTGAGTCACCCAATGAGAAC
AGCAACAACTCCCAGGGCCCGAGTCAGTCAGGGGGAACAGGTGAGCTTGACCTCACAGCCACACAACTTTCACAGGGTGCCAATGGCTGGCAGATCATCTCTTCC
TCCTCTGGGGCTACCCCTACCTCAAAGGAACAGAGTGGCAGCAGTACCAATGGCAGCAATGGCAGTGAGTCTTCCAAGAATCGCACAGTCTCTGGTGGGCAGTAT
GTTGTGGCTGCCGCTCCCAACTTACAGAACCAGCAAGTTCTGACAGGACTACCTGGAGTGATGCCTAATATTCAGTATCAAGTAATCCCACAGTTCCAGACCGTT
GATGGGCAACAGCTGCAGTTTGCTGCCACTGGGGCCCAAGTGCAGCAGGATGGTTCTGGTCAAATACAGATCATACCAGGTGCAAACCAACAGATTATCACAAAT
CGAGGAAGTGGAGGCAACATCATTGCTGCTATGCCAAACCTACTCCAGCAGGCTGTCCCCCTCCAAGGCCTGGCTAATAATGTACTCTCAGGACAGACTCAGTAT
GTGACCAATGTACCAGTGGCCCTGAATGGGAACATCACCTTGCTACCTGTCAACAGCGTTTCTGCAGCTACCTTGACTCCCAGCTCTCAGGCAGTCACGATCAGC
AGCTCTGGGTCCCAGGAGAGTGGCTCACAGCCTGTCACCTCAGGGACTACCATCAGTTCTGCCAGCTTGGTATCATCACAAGCCAGTTCCAGCTCCTTTTTCACC
AATGCCAATAGCTACTCAACTACTACTACCACCAGCAACATGGGAATTATGAACTTTACTACCAGTGGATCATCAGGGACCAACTCTCAAGGCCAGACACCCCAG
AGGGTCAGTGGGCTACAGGGGTCTGATGCTCTGAACATCCAGCAAAACCAGACATCTGGAGGCTCATTGCAAGCAGGCCAGCAAAAAGAAGGAGAGCAAAACCAG
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ATGGATGAAATGACAGCTGTGGTGAAAATTGAAAAAGGAGTTGGTGGCAATAATGGGGGCAATGGTAATGGTGGTGGTGCCTTTTCACAGGCTCGAAGTAGCAGC
ACAGGCAGTAGCAGCAGCACTGGAGGAGGAGGGCAGGAGTCCCAGCCATCCCCTTTGGCTCTGCTGGCAGCAACTTGCAGCAGAATTGAGTCACCCAATGAGAAC
AGCAACAACTCCCAGGGCCCGAGTCAGTCAGGGGGAACAGGTGAGCTTGACCTCACAGCCACACAACTTTCACAGGGTGCCAATGGCTGGCAGATCATCTCTTCC
TCCTCTGGGGCTACCCCTACCTCAAAGGAACAGAGTGGCAGCAGTACCAATGGCAGCAATGGCAGTGAGTCTTCCAAGAATCGCACAGTCTCTGGTGGGCAGTAT
GTTGTGGCTGCCGCTCCCAACTTACAGAACCAGCAAGTTCTGACAGGACTACCTGGAGTGATGCCTAATATTCAGTATCAAGTAATCCCACAGTTCCAGACCGTT
GATGGGCAACAGCTGCAGTTTGCTGCCACTGGGGCCCAAGTGCAGCAGGATGGTTCTGGTCAAATACAGATCATACCAGGTGCAAACCAACAGATTATCACAAAT
CGAGGAAGTGGAGGCAACATCATTGCTGCTATGCCAAACCTACTCCAGCAGGCTGTCCCCCTCCAAGGCCTGGCTAATAATGTACTCTCAGGACAGACTCAGTAT
GTGACCAATGTACCAGTGGCCCTGAATGGGAACATCACCTTGCTACCTGTCAACAGCGTTTCTGCAGCTACCTTGACTCCCAGCTCTCAGGCAGTCACGATCAGC
AGCTCTGGGTCCCAGGAGAGTGGCTCACAGCCTGTCACCTCAGGGACTACCATCAGTTCTGCCAGCTTGGTATCATCACAAGCCAGTTCCAGCTCCTTTTTCACC
AATGCCAATAGCTACTCAACTACTACTACCACCAGCAACATGGGAATTATGAACTTTACTACCAGTGGATCATCAGGGACCAACTCTCAAGGCCAGACACCCCAG
AGGGTCAGTGGGCTACAGGGGTCTGATGCTCTGAACATCCAGCAAAACCAGACATCTGGAGGCTCATTGCAAGCAGGCCAGCAAAAAGAAGGAGAGCAAAACCAG
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>SP1|6667|protein
MDEMTAVVKIEKGVGGNNGGNGNGGGAFSQARSSSTGSSSSTGGGGQESQPSPLALLAATCSRIESPNENSNNSQGPSQSGGTGELDLTATQLSQGANGWQIISS
SSGATPTSKEQSGSSTNGSNGSESSKNRTVSGGQYVVAAAPNLQNQQVLTGLPGVMPNIQYQVIPQFQTVDGQQLQFAATGAQVQQDGSGQIQIIPGANQQIITN
RGSGGNIIAAMPNLLQQAVPLQGLANNVLSGQTQYVTNVPVALNGNITLLPVNSVSAATLTPSSQAVTISSSGSQESGSQPVTSGTTISSASLVSSQASSSSFFT
NANSYSTTTTTSNMGIMNFTTSGSSGTNSQGQTPQRVSGLQGSDALNIQQNQTSGGSLQAGQQKEGEQNQQTQQQQILIQPQLVQGGQALQALQAAPLSGQTFTT
QAISQETLQNLQLQAVPNSGPIIIRTPTVGPNGQVSWQTLQLQNLQVQNPQAQTITLAPMQGVSLGQTSSSNTTLTPIASAASIPAGTVTVNAAQLSSMPGLQTI
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MDEMTAVVKIEKGVGGNNGGNGNGGGAFSQARSSSTGSSSSTGGGGQESQPSPLALLAATCSRIESPNENSNNSQGPSQSGGTGELDLTATQLSQGANGWQIISS
SSGATPTSKEQSGSSTNGSNGSESSKNRTVSGGQYVVAAAPNLQNQQVLTGLPGVMPNIQYQVIPQFQTVDGQQLQFAATGAQVQQDGSGQIQIIPGANQQIITN
RGSGGNIIAAMPNLLQQAVPLQGLANNVLSGQTQYVTNVPVALNGNITLLPVNSVSAATLTPSSQAVTISSSGSQESGSQPVTSGTTISSASLVSSQASSSSFFT
NANSYSTTTTTSNMGIMNFTTSGSSGTNSQGQTPQRVSGLQGSDALNIQQNQTSGGSLQAGQQKEGEQNQQTQQQQILIQPQLVQGGQALQALQAAPLSGQTFTT
QAISQETLQNLQLQAVPNSGPIIIRTPTVGPNGQVSWQTLQLQNLQVQNPQAQTITLAPMQGVSLGQTSSSNTTLTPIASAASIPAGTVTVNAAQLSSMPGLQTI
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Evidence summary TopClick 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 (1) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Campbell, 2009_1 | AGRE, USA | Standard TaqMan SNP genotyping assays | 629 | 1228 (-) | | | ASD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.