Evidence Details for ABR
Basic Information Top
| Gene Symbol: | ABR ( FLJ45954,MDB ) |
|---|---|
| Gene Full Name: | active BCR-related gene |
| Band: | 17p13.3 |
| Quick Links | Entrez ID:29; OMIM: 600365; Uniprot ID:ABR_HUMAN; ENSEMBL ID: ENSG00000159842; HGNC ID: 81 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ABR|29|nucleotide
ATGGAGGAGGAAGAGGAGGCGATAGGCTTGCTGGACAAGGTTCTGGAGGACGAAGATGTGTTTCTCCTGGAGGAGTGCGAGCTGGGAACCCCGACCAGCCCCGGC
TCAGGGTCCCCCTTCCTGGTGGCTGTGAAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATT
AACCAGCTGGAAGCCCTGTTGCTGCCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAG
ATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG
GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCA
GAGGAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAGCTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACC
CTAGTCCTACACGACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAAC
GAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAGACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAG
CTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGGGAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTG
GCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTC
AAGAGTGAAATCCAGAAGGAGAAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCC
Show »
ATGGAGGAGGAAGAGGAGGCGATAGGCTTGCTGGACAAGGTTCTGGAGGACGAAGATGTGTTTCTCCTGGAGGAGTGCGAGCTGGGAACCCCGACCAGCCCCGGC
TCAGGGTCCCCCTTCCTGGTGGCTGTGAAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATT
AACCAGCTGGAAGCCCTGTTGCTGCCCATGAAACCCCTGAAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTCTACAAG
ATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAGGTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG
GCCAGCCAGCTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAGTGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCA
GAGGAACTCAAAGTGAAAGGTCCCAAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAGCTCTGCTCTACAAGCCCATTGACCGGGTCACTCGGAGCACC
CTAGTCCTACACGACCTGCTGAAGCACACACCTGTGGACCACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGCATCAAC
GAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAGACGCGACAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAG
CTGCGGCACGTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGGGAAGCACCAGCAGTATGACTGTAAGTGGTACATCCCCCTG
GCCGACCTGGTGTTTCCATCCCCCGAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATGAAGATGAAGATCTCTGCCCTC
AAGAGTGAAATCCAGAAGGAGAAAGCCAACAAAGGCCAGAGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTCAACTCC
Show »
>ABR|29|protein
MEEEEEAIGLLDKVLEDEDVFLLEECELGTPTSPGSGSPFLVAVKVEAGKGLEMRKLVLSGFLASEEIYINQLEALLLPMKPLKATATTSQPVLTIQQIETIFYK
IQDIYEIHKEFYDNLCPKVQQWDSQVTMGHLFQKLASQLGVYKAFVDNYKVALETAEKCSQSNNQFQKISEELKVKGPKDSKDSHTSVTMEALLYKPIDRVTRST
LVLHDLLKHTPVDHPDYPLLQDALRISQNFLSSINEDIDPRRTAVTTPKGETRQLVKDGFLVEVSESSRKLRHVFLFTDVLLCAKLKKTSAGKHQQYDCKWYIPL
ADLVFPSPEESEASPQVHPFPDHELEDMKMKISALKSEIQKEKANKGQSRAIERLKKKMFENEFLLLLNSPTIPFRIHNRNGKSYLFLLSSDYERSEWREAIQKL
QKKDLQAFVLSSVELQVLTGSCFKLRTVHNIPVTSNKDDDESPGLYGFLHVIVHSAKGFKQSANLYCTLEVDSFGYFVSKAKTRVFRDTAEPKWDEEFEIELEGS
Show »
MEEEEEAIGLLDKVLEDEDVFLLEECELGTPTSPGSGSPFLVAVKVEAGKGLEMRKLVLSGFLASEEIYINQLEALLLPMKPLKATATTSQPVLTIQQIETIFYK
IQDIYEIHKEFYDNLCPKVQQWDSQVTMGHLFQKLASQLGVYKAFVDNYKVALETAEKCSQSNNQFQKISEELKVKGPKDSKDSHTSVTMEALLYKPIDRVTRST
LVLHDLLKHTPVDHPDYPLLQDALRISQNFLSSINEDIDPRRTAVTTPKGETRQLVKDGFLVEVSESSRKLRHVFLFTDVLLCAKLKKTSAGKHQQYDCKWYIPL
ADLVFPSPEESEASPQVHPFPDHELEDMKMKISALKSEIQKEKANKGQSRAIERLKKKMFENEFLLLLNSPTIPFRIHNRNGKSYLFLLSSDYERSEWREAIQKL
QKKDLQAFVLSSVELQVLTGSCFKLRTVHNIPVTSNKDDDESPGLYGFLHVIVHSAKGFKQSANLYCTLEVDSFGYFVSKAKTRVFRDTAEPKWDEEFEIELEGS
Show »
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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (5) |
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 | ||||||
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS 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.