Evidence Details for SHCBP1
Basic Information Top
| Gene Symbol: | SHCBP1 ( FLJ22009,MGC26900,PAL ) |
|---|---|
| Gene Full Name: | SHC SH2-domain binding protein 1 |
| Band: | 16q11.2 |
| Quick Links | Entrez ID:79801; OMIM: 611027; Uniprot ID:SHCBP_HUMAN; ENSEMBL ID: ENSG00000171241; HGNC ID: 29547 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SHCBP1|79801|nucleotide
ATGGCTGACGGGTCGCTGACGGGCGGCGGTCTGGAGGCAGCGGCCATGGCGCCGGAGCGCACGGGCTGGGCGGTGGAGCAGGAGCTGGCGTCTCTGGAGAAAGGT
TTGTTCCAAGATGAAGATTCATGCAGTGATTGTAGCTACCGTGATAAACCAGGTTCTAGTTTACAAAGTTTTATGCCAGAAGGAAAAACCTTTTTCCCAGAAATT
TTCCAAACAAATCAACTTTTGTTCTATGAGCGATTCAGAGCCTATCAAGATTACATTTTAGCTGACTGCAAGGCCTCTGAGGTACAGGAATTCACAGCTGAGTTC
TTGGAGAAGGTCCTTGAGCCATCTGGATGGCGGGCAGTCTGGCACACTAATGTGTTCAAGGTGCTGGTTGAGATCACAGATGTGGACTTTGCAGCCTTGAAGGCA
GTGGTGAGGCTTGCTGAACCATACCTCTGTGACTCTCAAGTGAGCACTTTTACCATGGAGTGCATGAAGGAGCTCCTTGATCTGAAGGAGCATCGGTTGCCCCTG
CAGGAGCTGTGGGTGGTGTTTGATGATTCAGGAGTGTTTGACCAGACAGCCCTTGCAATTGAGCATGTCAGATTTTTCTACCAAAACATTTGGAGGAGTTGGGAT
GAAGAAGAGGAGGATGAATACGATTATTTTGTCAGATGTGTTGAACCTCGATTAAGATTGCATTATGACATTCTTGAAGACCGAGTTCCATCAGGACTTATTGTT
GACTACCACAATCTGTTGTCTCAATGTGAGGAGAGTTACAGGAAATTTTTAAATCTGAGAAGCAGTTTGTCAAATTGTAACTCTGATTCCGAGCAGGAAAATATC
TCCATGGTGGAAGGGTTAAAATTGTATTCGGAGATGGAACAGTTGAAACAAAAGCTGAAACTCATTGAGAATCCTTTGTTGAGGTATGTGTTTGGTTATCAGAAG
AATTCTAACATCCAAGCAAAGGGTGTCCGTTCCAGCGGTCAGAAGATCACTCATGTGGTCTCCTCCACCATGATGGCTGGTCTCCTGCGGTCCCTGCTTACGGAC
AGGCTTTGCCAGGAGCCTGGTGAGGAAGAAAGAGAAATTCAGTTCCATAGTGATCCATTGTCTGCTATAAATGCCTGCTTCGAAGGTGACACTGTTATTGTTTGT
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ATGGCTGACGGGTCGCTGACGGGCGGCGGTCTGGAGGCAGCGGCCATGGCGCCGGAGCGCACGGGCTGGGCGGTGGAGCAGGAGCTGGCGTCTCTGGAGAAAGGT
TTGTTCCAAGATGAAGATTCATGCAGTGATTGTAGCTACCGTGATAAACCAGGTTCTAGTTTACAAAGTTTTATGCCAGAAGGAAAAACCTTTTTCCCAGAAATT
TTCCAAACAAATCAACTTTTGTTCTATGAGCGATTCAGAGCCTATCAAGATTACATTTTAGCTGACTGCAAGGCCTCTGAGGTACAGGAATTCACAGCTGAGTTC
TTGGAGAAGGTCCTTGAGCCATCTGGATGGCGGGCAGTCTGGCACACTAATGTGTTCAAGGTGCTGGTTGAGATCACAGATGTGGACTTTGCAGCCTTGAAGGCA
GTGGTGAGGCTTGCTGAACCATACCTCTGTGACTCTCAAGTGAGCACTTTTACCATGGAGTGCATGAAGGAGCTCCTTGATCTGAAGGAGCATCGGTTGCCCCTG
CAGGAGCTGTGGGTGGTGTTTGATGATTCAGGAGTGTTTGACCAGACAGCCCTTGCAATTGAGCATGTCAGATTTTTCTACCAAAACATTTGGAGGAGTTGGGAT
GAAGAAGAGGAGGATGAATACGATTATTTTGTCAGATGTGTTGAACCTCGATTAAGATTGCATTATGACATTCTTGAAGACCGAGTTCCATCAGGACTTATTGTT
GACTACCACAATCTGTTGTCTCAATGTGAGGAGAGTTACAGGAAATTTTTAAATCTGAGAAGCAGTTTGTCAAATTGTAACTCTGATTCCGAGCAGGAAAATATC
TCCATGGTGGAAGGGTTAAAATTGTATTCGGAGATGGAACAGTTGAAACAAAAGCTGAAACTCATTGAGAATCCTTTGTTGAGGTATGTGTTTGGTTATCAGAAG
AATTCTAACATCCAAGCAAAGGGTGTCCGTTCCAGCGGTCAGAAGATCACTCATGTGGTCTCCTCCACCATGATGGCTGGTCTCCTGCGGTCCCTGCTTACGGAC
AGGCTTTGCCAGGAGCCTGGTGAGGAAGAAAGAGAAATTCAGTTCCATAGTGATCCATTGTCTGCTATAAATGCCTGCTTCGAAGGTGACACTGTTATTGTTTGT
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>SHCBP1|79801|protein
MADGSLTGGGLEAAAMAPERTGWAVEQELASLEKGLFQDEDSCSDCSYRDKPGSSLQSFMPEGKTFFPEIFQTNQLLFYERFRAYQDYILADCKASEVQEFTAEF
LEKVLEPSGWRAVWHTNVFKVLVEITDVDFAALKAVVRLAEPYLCDSQVSTFTMECMKELLDLKEHRLPLQELWVVFDDSGVFDQTALAIEHVRFFYQNIWRSWD
EEEEDEYDYFVRCVEPRLRLHYDILEDRVPSGLIVDYHNLLSQCEESYRKFLNLRSSLSNCNSDSEQENISMVEGLKLYSEMEQLKQKLKLIENPLLRYVFGYQK
NSNIQAKGVRSSGQKITHVVSSTMMAGLLRSLLTDRLCQEPGEEEREIQFHSDPLSAINACFEGDTVIVCPGHYVVHGTFSIADSIELEGYGLPDDIVIEKRGKG
DTFVDCTGADIKISGIKFVQHDAVEGILIVHRGKTTLENCVLQCETTGVTVRTSAEFLMKNSDLYGAKGAGIEIYPGSQCTLSDNGIHHCKEGILIKDFLDEHYD
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MADGSLTGGGLEAAAMAPERTGWAVEQELASLEKGLFQDEDSCSDCSYRDKPGSSLQSFMPEGKTFFPEIFQTNQLLFYERFRAYQDYILADCKASEVQEFTAEF
LEKVLEPSGWRAVWHTNVFKVLVEITDVDFAALKAVVRLAEPYLCDSQVSTFTMECMKELLDLKEHRLPLQELWVVFDDSGVFDQTALAIEHVRFFYQNIWRSWD
EEEEDEYDYFVRCVEPRLRLHYDILEDRVPSGLIVDYHNLLSQCEESYRKFLNLRSSLSNCNSDSEQENISMVEGLKLYSEMEQLKQKLKLIENPLLRYVFGYQK
NSNIQAKGVRSSGQKITHVVSSTMMAGLLRSLLTDRLCQEPGEEEREIQFHSDPLSAINACFEGDTVIVCPGHYVVHGTFSIADSIELEGYGLPDDIVIEKRGKG
DTFVDCTGADIKISGIKFVQHDAVEGILIVHRGKTTLENCVLQCETTGVTVRTSAEFLMKNSDLYGAKGAGIEIYPGSQCTLSDNGIHHCKEGILIKDFLDEHYD
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (2) |
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top