Evidence Details for CYFIP1
Basic Information Top
Gene Symbol: | CYFIP1 ( FLJ45151,P140SRA-1,SHYC,SRA1 ) |
---|---|
Gene Full Name: | cytoplasmic FMR1 interacting protein 1 |
Band: | 15q11.2 |
Quick Links | Entrez ID:23191; OMIM: 606322; Uniprot ID:CYFP1_HUMAN; ENSEMBL ID: ENSG00000068793; HGNC ID: 13759 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CYFIP1|23191|nucleotide
ATGGCCGAGTCCTTGGGCTCTGCCGAGCTGCTCAGGCAGCTCAAGTCTCTGGGCATGGAGAGGCTCTTGCATGCGGTTAACACGTTTCTGAGGCAGTCGTGCACC
TACCTACCCCTTTTAACCTTTGGTGGTAAGACATCATTTGTTTCTCTTGACGTTTATGGCACGGAGGCGAACTGCTCCGCTACAAGTTGTTCTTTCCCCAAAGCA
GCAGCAACGTGGCCGCGTAGACAGGCACCCGGACCCCTCGGGGAGCTGGTGCGGGGCCCTCCCGACCAGGGCGTAGCGGAGCAGTCCTTCTCTCATGGGCTTTTT
GAGTTTGGCATAACTAATGTACCATGTATATTTTCTCCCCCACAAATGTTTCCTTGGATAATCCAGCTTTACATGGTGAGAACCATGCTAGAGTCCCTCATTGCA
GACAAAAGTGGTTCCAAGAAAACCTTGAGAAGTAGCCTTGAGGGGCCCACCATATTGGACATAGAAAAATTTCATCGAGAGTCATTCTTCTACACTCACTTGATA
AATTTCAGTGAAACGCTGCAGCAGTGCTGTGACCTTTCGCAGCTGTGGTTCCGAGAGTTCTTCCTGGAGCTGACCATGGGCAGGAGGATCCAGTTCCCCATTGAG
ATGTCGATGCCCTGGATCCTGACGGACCACATCCTGGAGACCAAGGAGGCATCGATGATGGAGTACGTGCTCTACTCCCTGGACCTGTACAATGACAGCGCCCAC
TACGCGCTCACCAGGTTCAACAAGCAGTTCCTGTACGACGAAATTGAGGCCGAGGTGAATCTATGTTTTGACCAATTTGTTTACAAGCTAGCAGACCAGATATTT
GCCTATTATAAGGTTATGGCAGGAAGTTTGCTTCTTGATAAACGGTTACGATCAGAATGCAAGAATCAGGGAGCCACGATCCACCTCCCGCCGTCTAACCGCTAC
GAGACGCTGCTGAAGCAGAGGCATGTGCAGCTCCTCGGCAGATCAATAGACCTCAATCGTCTGATCACCCAGCGCGTCTCAGCAGCCATGTATAAGTCCCTAGAA
CTGGCGATTGGACGATTTGAAAGTGAAGATTTGACCTCCATAGTTGAGCTGGATGGCCTGTTGGAAATCAACCGCATGACCCACAAGCTGCTGAGCCGGTACCTG
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ATGGCCGAGTCCTTGGGCTCTGCCGAGCTGCTCAGGCAGCTCAAGTCTCTGGGCATGGAGAGGCTCTTGCATGCGGTTAACACGTTTCTGAGGCAGTCGTGCACC
TACCTACCCCTTTTAACCTTTGGTGGTAAGACATCATTTGTTTCTCTTGACGTTTATGGCACGGAGGCGAACTGCTCCGCTACAAGTTGTTCTTTCCCCAAAGCA
GCAGCAACGTGGCCGCGTAGACAGGCACCCGGACCCCTCGGGGAGCTGGTGCGGGGCCCTCCCGACCAGGGCGTAGCGGAGCAGTCCTTCTCTCATGGGCTTTTT
GAGTTTGGCATAACTAATGTACCATGTATATTTTCTCCCCCACAAATGTTTCCTTGGATAATCCAGCTTTACATGGTGAGAACCATGCTAGAGTCCCTCATTGCA
GACAAAAGTGGTTCCAAGAAAACCTTGAGAAGTAGCCTTGAGGGGCCCACCATATTGGACATAGAAAAATTTCATCGAGAGTCATTCTTCTACACTCACTTGATA
AATTTCAGTGAAACGCTGCAGCAGTGCTGTGACCTTTCGCAGCTGTGGTTCCGAGAGTTCTTCCTGGAGCTGACCATGGGCAGGAGGATCCAGTTCCCCATTGAG
ATGTCGATGCCCTGGATCCTGACGGACCACATCCTGGAGACCAAGGAGGCATCGATGATGGAGTACGTGCTCTACTCCCTGGACCTGTACAATGACAGCGCCCAC
TACGCGCTCACCAGGTTCAACAAGCAGTTCCTGTACGACGAAATTGAGGCCGAGGTGAATCTATGTTTTGACCAATTTGTTTACAAGCTAGCAGACCAGATATTT
GCCTATTATAAGGTTATGGCAGGAAGTTTGCTTCTTGATAAACGGTTACGATCAGAATGCAAGAATCAGGGAGCCACGATCCACCTCCCGCCGTCTAACCGCTAC
GAGACGCTGCTGAAGCAGAGGCATGTGCAGCTCCTCGGCAGATCAATAGACCTCAATCGTCTGATCACCCAGCGCGTCTCAGCAGCCATGTATAAGTCCCTAGAA
CTGGCGATTGGACGATTTGAAAGTGAAGATTTGACCTCCATAGTTGAGCTGGATGGCCTGTTGGAAATCAACCGCATGACCCACAAGCTGCTGAGCCGGTACCTG
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>CYFIP1|23191|protein
MAESLGSAELLRQLKSLGMERLLHAVNTFLRQSCTYLPLLTFGGKTSFVSLDVYGTEANCSATSCSFPKAAATWPRRQAPGPLGELVRGPPDQGVAEQSFSHGLF
EFGITNVPCIFSPPQMFPWIIQLYMVRTMLESLIADKSGSKKTLRSSLEGPTILDIEKFHRESFFYTHLINFSETLQQCCDLSQLWFREFFLELTMGRRIQFPIE
MSMPWILTDHILETKEASMMEYVLYSLDLYNDSAHYALTRFNKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKVMAGSLLLDKRLRSECKNQGATIHLPPSNRY
ETLLKQRHVQLLGRSIDLNRLITQRVSAAMYKSLELAIGRFESEDLTSIVELDGLLEINRMTHKLLSRYLTLDGFDAMFREANHNVSAPYGRITLHVFWELNYDF
LPNYCYNGSTNRFVRTVLPFSQEFQRDKQPNAQPQYLHGSKALNLAYSSIYGSYRNFVGPPHFQVICRLLGYQGIAVVMEELLKVVKSLLQGTILQYVKTLMEVM
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MAESLGSAELLRQLKSLGMERLLHAVNTFLRQSCTYLPLLTFGGKTSFVSLDVYGTEANCSATSCSFPKAAATWPRRQAPGPLGELVRGPPDQGVAEQSFSHGLF
EFGITNVPCIFSPPQMFPWIIQLYMVRTMLESLIADKSGSKKTLRSSLEGPTILDIEKFHRESFFYTHLINFSETLQQCCDLSQLWFREFFLELTMGRRIQFPIE
MSMPWILTDHILETKEASMMEYVLYSLDLYNDSAHYALTRFNKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKVMAGSLLLDKRLRSECKNQGATIHLPPSNRY
ETLLKQRHVQLLGRSIDLNRLITQRVSAAMYKSLELAIGRFESEDLTSIVELDGLLEINRMTHKLLSRYLTLDGFDAMFREANHNVSAPYGRITLHVFWELNYDF
LPNYCYNGSTNRFVRTVLPFSQEFQRDKQPNAQPQYLHGSKALNLAYSSIYGSYRNFVGPPHFQVICRLLGYQGIAVVMEELLKVVKSLLQGTILQYVKTLMEVM
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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) | 3 (20) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 1 (1) | 19 (25) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Wolpert, 2000 | - | STS mapping | autism | 3 | - | 3 | - | 3 | - | 3 | ||
Wassink, 2001 | USA | Chromosomal analysis of G-band | autism | - | - | - | - | 278 | - | 278 | ||
Silva, 2002 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Keller, 2003 | USA | FISH | ASD | - | - | - | - | 2 | - | 2 | ||
Sahoo, 2005 | USA | aCGH | autism | - | - | - | - | 9 | - | 9 | ||
Sebat, 2007 | USA | aCGH | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | ||
Wassink, 2007 | USA | FISH | PDD | - | - | - | - | 104 | - | 104 | ||
Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Christian, 2008 | USA | aCGH | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 | ||
van der Zwaag, 2009 | Holland | SNP microarray | ASD | 2 | - | 2 | - | 3 | 267 | 270 | ||
Gregory, 2009 | USA | aCGH | ASD | - | - | - | - | 119 | 54 | 173 | ||
Bremer, 2009 | - | aCGH | ASD | - | - | - | - | 148 | - | 148 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 | ||
Zhang Y, 2015 | China | - | autistic | 1 | - | - | - | 2 | - | 2 | ||
Kanduri C, 2016 | Finnish | - | autism | 83 | - | - | - | 257 | 288 | 545 | ||
Alvarez-Mora MI, 2016 | - | Microarray | ASD | - | - | - | - | 44 | - | - |
Linkage Studies Top
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) |
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 Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | autism with dup(15q) | autism | 15 (-) |
1.23 | Up | 0.0000000011 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Alvarez-Mora MI, 2016 | - | Illumina MiSeq | ASD | - | - | - | 44 | Sanger sequencing |
Low Scale Gene Studies Top
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