Evidence Details for RBPJ
Basic Information Top
| Gene Symbol: | RBPJ ( CBF1,IGKJRB,IGKJRB1,KBF2,MGC61669,RBP-J,RBPJK,RBPSUH,SUH,csl ) |
|---|---|
| Gene Full Name: | recombination signal binding protein for immunoglobulin kappa J region |
| Band: | 4p15.2 |
| Quick Links | Entrez ID:3516; OMIM: 147183; Uniprot ID:SUH_HUMAN; ENSEMBL ID: ENSG00000168214; HGNC ID: 5724 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RBPJ|3516|nucleotide
ATGGACCACACGGAGGGCTCGCCCGCGGAGGAGCCGCCTGCGCATGCTCCATCGCCTGGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCT
ATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCT
CCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATA
GGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATG
TTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAA
AATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTT
CATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGA
CAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTG
TCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAA
GAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCA
GTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGG
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ATGGACCACACGGAGGGCTCGCCCGCGGAGGAGCCGCCTGCGCATGCTCCATCGCCTGGGAAATTTGGTGAGCGGCCTCCACCTAAACGACTTACTAGGGAAGCT
ATGCGAAATTATTTAAAAGAGCGAGGGGATCAAACAGTACTTATTCTTCATGCAAAAGTTGCACAGAAGTCATATGGAAATGAAAAAAGGTTTTTTTGCCCACCT
CCTTGTGTATATCTTATGGGCAGTGGATGGAAGAAAAAAAAAGAACAAATGGAACGCGATGGTTGTTCTGAACAAGAGTCTCAACCGTGTGCATTTATTGGGATA
GGAAATAGTGACCAAGAAATGCAGCAGCTAAACTTGGAAGGAAAGAACTATTGCACAGCCAAAACATTGTATATATCTGACTCAGACAAGCGAAAGCACTTCATG
TTGTCTGTAAAGATGTTCTATGGCAACAGTGATGACATTGGTGTGTTCCTCAGCAAGCGGATAAAAGTCATCTCCAAACCTTCCAAAAAGAAGCAGTCATTGAAA
AATGCTGACTTATGCATTGCCTCAGGAACAAAGGTGGCTCTGTTTAATCGACTACGATCCCAGACAGTTAGTACCAGATACTTGCATGTAGAAGGAGGTAATTTT
CATGCCAGTTCACAGCAGTGGGGAGCCTTTTTTATTCATCTCTTGGATGATGATGAATCAGAAGGAGAAGAATTCACAGTCCGAGATGGCTACATCCATTATGGA
CAAACAGTCAAACTTGTGTGCTCAGTTACTGGCATGGCACTCCCAAGATTGATAATTAGGAAAGTTGATAAGCAGACCGCATTATTGGATGCAGATGATCCTGTG
TCACAACTCCATAAATGTGCATTTTACCTTAAGGATACAGAAAGAATGTATTTGTGCCTTTCTCAAGAAAGAATAATTCAATTTCAGGCCACTCCATGTCCAAAA
GAACCAAATAAAGAGATGATAAATGATGGCGCTTCCTGGACAATCATTAGCACAGATAAGGCAGAGTATACATTTTATGAGGGAATGGGCCCTGTCCTTGCCCCA
GTCACTCCTGTGCCTGTGGTAGAGAGCCTTCAGTTGAATGGCGGTGGGGACGTAGCAATGCTTGAACTTACAGGACAGAATTTCACTCCAAATTTACGAGTGTGG
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>RBPJ|3516|protein
MDHTEGSPAEEPPAHAPSPGKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGI
GNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFMLSVKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNF
HASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDKQTALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPK
EPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRCGESMLCVVPDISAFREGWRWVRQ
PVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS
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MDHTEGSPAEEPPAHAPSPGKFGERPPPKRLTREAMRNYLKERGDQTVLILHAKVAQKSYGNEKRFFCPPPCVYLMGSGWKKKKEQMERDGCSEQESQPCAFIGI
GNSDQEMQQLNLEGKNYCTAKTLYISDSDKRKHFMLSVKMFYGNSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVALFNRLRSQTVSTRYLHVEGGNF
HASSQQWGAFFIHLLDDDESEGEEFTVRDGYIHYGQTVKLVCSVTGMALPRLIIRKVDKQTALLDADDPVSQLHKCAFYLKDTERMYLCLSQERIIQFQATPCPK
EPNKEMINDGASWTIISTDKAEYTFYEGMGPVLAPVTPVPVVESLQLNGGGDVAMLELTGQNFTPNLRVWFGDVEAETMYRCGESMLCVVPDISAFREGWRWVRQ
PVQVPVTLVRNDGIIYSTSLTFTYTPEPGPRPHCSAAGAILRANSSQVPPNESNTNSEGSYTNASTNSTSVTSSTATVVS
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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 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 1 (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 TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | | | - | AD | 22 (13.64%) |
-1.17 | Down | 0.061 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.