Evidence Details for RFC3
Basic Information Top
| Gene Symbol: | RFC3 ( MGC5276,RFC38 ) |
|---|---|
| Gene Full Name: | replication factor C (activator 1) 3, 38kDa |
| Band: | 13q13.2 |
| Quick Links | Entrez ID:5983; OMIM: 600405; Uniprot ID:RFC3_HUMAN; ENSEMBL ID: ENSG00000133119; HGNC ID: 9971 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RFC3|5983|nucleotide
ATGAGCCTCTGGGTGGACAAGTATCGGCCCTGCTCCTTGGGACGGCTGGACTATCACAAGGAGCAGGCGGCCCAGCTGCGGAACCTGGTGCAGTGTGGTGACTTT
CCTCATCTGTTAGTGTACGGACCATCAGGTGCTGGAAAAAAGACAAGAATTATGTGTATTCTACGTGAACTTTATGGTGTTGGAGTGGAAAAATTGAGAATTGAA
CATCAGACCATCACAACTCCATCTAAAAAAAAAATTGAAATTAGCACCATTGCAAGTAACTACCACCTTGAAGTTAATCCTAGTGATGCTGGAAATAGTGACCGA
GTAGTCATTCAGGAGATGTTGAAAACAGTGGCACAATCACAACAACTTGAAACAAACTCTCAAAGGGATTTTAAAGTGGTATTATTGACAGAAGTTGACAAACTC
ACCAAAGATGCTCAGCATGCCTTGCGAAGAACCATGGAAAAATATATGTCTACCTGCAGATTGATCTTGTGCTGCAATTCTACATCTAAAGTGATCCCACCTATT
CGTAGTAGGTGCTTGGCGGTTCGTGTGCCTGCTCCCAGCATTGAAGATATTTGCCACGTGTTATCTACTGTGTGTAAGAAGGAAGGTCTGAATCTTCCTTCACAA
CTGGCTCATAGACTTGCAGAGAAGTCTTGTAGAAATCTCAGAAAAGCCCTGCTTATGTGTGAAGCCTGCAGAGTGCAACAATATCCTTTTACTGCAGATCAAGAA
ATCCCTGAGACAGATTGGGAGGTGTATCTGAGGGAGACTGCAAATGCTATTGTCAGTCAGCAAACTCCACAAAGGCTCCTTGAAGTTCGTGGAAGGCTGTATGAG
CTTCTAACTCATTGTATTCCTCCTGAGATAATAATGAAGGGCCTTCTCTCAGAACTGTTACATAATTGTGATGGACAACTGAAAGGGGAGGTGGCACAAATGGCA
GCTTACTATGAGCATCGTCTACAGCTGGGTAGCAAAGCCATTTATCACTTGGAAGCGTTTGTGGCCAAATTCATGGCACTTTATAAGAAGTTCATGGAGGATGGA
TTGGAAGGCATGATGTTCTGA
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ATGAGCCTCTGGGTGGACAAGTATCGGCCCTGCTCCTTGGGACGGCTGGACTATCACAAGGAGCAGGCGGCCCAGCTGCGGAACCTGGTGCAGTGTGGTGACTTT
CCTCATCTGTTAGTGTACGGACCATCAGGTGCTGGAAAAAAGACAAGAATTATGTGTATTCTACGTGAACTTTATGGTGTTGGAGTGGAAAAATTGAGAATTGAA
CATCAGACCATCACAACTCCATCTAAAAAAAAAATTGAAATTAGCACCATTGCAAGTAACTACCACCTTGAAGTTAATCCTAGTGATGCTGGAAATAGTGACCGA
GTAGTCATTCAGGAGATGTTGAAAACAGTGGCACAATCACAACAACTTGAAACAAACTCTCAAAGGGATTTTAAAGTGGTATTATTGACAGAAGTTGACAAACTC
ACCAAAGATGCTCAGCATGCCTTGCGAAGAACCATGGAAAAATATATGTCTACCTGCAGATTGATCTTGTGCTGCAATTCTACATCTAAAGTGATCCCACCTATT
CGTAGTAGGTGCTTGGCGGTTCGTGTGCCTGCTCCCAGCATTGAAGATATTTGCCACGTGTTATCTACTGTGTGTAAGAAGGAAGGTCTGAATCTTCCTTCACAA
CTGGCTCATAGACTTGCAGAGAAGTCTTGTAGAAATCTCAGAAAAGCCCTGCTTATGTGTGAAGCCTGCAGAGTGCAACAATATCCTTTTACTGCAGATCAAGAA
ATCCCTGAGACAGATTGGGAGGTGTATCTGAGGGAGACTGCAAATGCTATTGTCAGTCAGCAAACTCCACAAAGGCTCCTTGAAGTTCGTGGAAGGCTGTATGAG
CTTCTAACTCATTGTATTCCTCCTGAGATAATAATGAAGGGCCTTCTCTCAGAACTGTTACATAATTGTGATGGACAACTGAAAGGGGAGGTGGCACAAATGGCA
GCTTACTATGAGCATCGTCTACAGCTGGGTAGCAAAGCCATTTATCACTTGGAAGCGTTTGTGGCCAAATTCATGGCACTTTATAAGAAGTTCATGGAGGATGGA
TTGGAAGGCATGATGTTCTGA
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>RFC3|5983|protein
MSLWVDKYRPCSLGRLDYHKEQAAQLRNLVQCGDFPHLLVYGPSGAGKKTRIMCILRELYGVGVEKLRIEHQTITTPSKKKIEISTIASNYHLEVNPSDAGNSDR
VVIQEMLKTVAQSQQLETNSQRDFKVVLLTEVDKLTKDAQHALRRTMEKYMSTCRLILCCNSTSKVIPPIRSRCLAVRVPAPSIEDICHVLSTVCKKEGLNLPSQ
LAHRLAEKSCRNLRKALLMCEACRVQQYPFTADQEIPETDWEVYLRETANAIVSQQTPQRLLEVRGRLYELLTHCIPPEIIMKGLLSELLHNCDGQLKGEVAQMA
AYYEHRLQLGSKAIYHLEAFVAKFMALYKKFMEDGLEGMMF
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MSLWVDKYRPCSLGRLDYHKEQAAQLRNLVQCGDFPHLLVYGPSGAGKKTRIMCILRELYGVGVEKLRIEHQTITTPSKKKIEISTIASNYHLEVNPSDAGNSDR
VVIQEMLKTVAQSQQLETNSQRDFKVVLLTEVDKLTKDAQHALRRTMEKYMSTCRLILCCNSTSKVIPPIRSRCLAVRVPAPSIEDICHVLSTVCKKEGLNLPSQ
LAHRLAEKSCRNLRKALLMCEACRVQQYPFTADQEIPETDWEVYLRETANAIVSQQTPQRLLEVRGRLYELLTHCIPPEIIMKGLLSELLHNCDGQLKGEVAQMA
AYYEHRLQLGSKAIYHLEAFVAKFMALYKKFMEDGLEGMMF
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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 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Smith, 2002 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
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.