Evidence Details for BCAS3
Basic Information Top
| Gene Symbol: | BCAS3 ( DKFZp686O1527,FLJ20128,GAOB1,MAAB,MGC4973 ) |
|---|---|
| Gene Full Name: | breast carcinoma amplified sequence 3 |
| Band: | 17q23.2 |
| Quick Links | Entrez ID:54828; OMIM: 607470; Uniprot ID:BCAS3_HUMAN; ENSEMBL ID: ENSG00000141376; HGNC ID: 14347 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BCAS3|54828|nucleotide
ATGAATGAAGCTATGGCTACAGATTCCCCAAGAAGACCCAGTCGTTGTACTGGTGGAGTTGTGGTTCGCCCCCAGGCTGTCACAGAGCAGTCCTACATGGAAAGT
GTTGTGACTTTTCTGCAGGATGTTGTGCCACAGGCTTACAGTGGAACACCTCTAACAGAAGAAAAGGAGAAAATAGTCTGGGTCAGATTTGAAAATGCAGATTTA
AATGATACATCAAGAAATCTGGAATTTCATGAAATACATAGTACTGGGAATGAACCGCCTTTGTTGATTATGATTGGCTACAGTGATGGAATGCAGGTCTGGAGC
ATCCCTATCAGTGGCGAAGCACAAGAGCTCTTCTCTGTTCGACATGGCCCAATTCGAGCGGCTAGAATCTTGCCTGCTCCACAGTTTGGTGCTCAAAAATGTGAT
AACTTTGCTGAAAAAAGACCCCTCCTTGGTGTTTGTAAGAGCATTGGATCTTCTGGCACAAGCCCACCGTACTGTTGTGTGGATCTGTATTCACTTCGTACTGGG
GAGATGGTCAAGTCCATTCAATTTAAGACACCTATTTATGATCTCCATTGCAATAAACGGATCCTTGTCGTAGTCTTGCAGGAGAAAATTGCTGCCTTTGATAGC
TGTACTTTCACGAAGAAATTCTTTGTTACAAGCTGCTATCCATGTCCAGGGCCAAACATGAATCCTATTGCTCTTGGGAGCCGCTGGCTTGCTTATGCAGAAAAC
AAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAACATTGAAAAGTGGCCTG
ACAATGGTAGGGAAAGTGGTGACTCAGCTGACAGGCACACTGCCTTCAGGTGTGACAGAAGATGATGTTGCCATCCACAGTAATTCACGGCGGAGTCCTTTGGTC
CCAGGCATCATCACAGTTATTGACACCGAAACCGTTGGAGAGGGCCAGGTGCTTGTGAGTGAGGATTCTGACAGTGATGGCATTGTGGCCCACTTCCCTGCCCAT
GAGAAGCCAGTGTGCTGCATGGCTTTTAATACAAGTGGAATGCTTCTAGTCACAACAGACACCCTTGGCCATGACTTTCATGTCTTCCAAATTCTGACTCATCCT
Show »
ATGAATGAAGCTATGGCTACAGATTCCCCAAGAAGACCCAGTCGTTGTACTGGTGGAGTTGTGGTTCGCCCCCAGGCTGTCACAGAGCAGTCCTACATGGAAAGT
GTTGTGACTTTTCTGCAGGATGTTGTGCCACAGGCTTACAGTGGAACACCTCTAACAGAAGAAAAGGAGAAAATAGTCTGGGTCAGATTTGAAAATGCAGATTTA
AATGATACATCAAGAAATCTGGAATTTCATGAAATACATAGTACTGGGAATGAACCGCCTTTGTTGATTATGATTGGCTACAGTGATGGAATGCAGGTCTGGAGC
ATCCCTATCAGTGGCGAAGCACAAGAGCTCTTCTCTGTTCGACATGGCCCAATTCGAGCGGCTAGAATCTTGCCTGCTCCACAGTTTGGTGCTCAAAAATGTGAT
AACTTTGCTGAAAAAAGACCCCTCCTTGGTGTTTGTAAGAGCATTGGATCTTCTGGCACAAGCCCACCGTACTGTTGTGTGGATCTGTATTCACTTCGTACTGGG
GAGATGGTCAAGTCCATTCAATTTAAGACACCTATTTATGATCTCCATTGCAATAAACGGATCCTTGTCGTAGTCTTGCAGGAGAAAATTGCTGCCTTTGATAGC
TGTACTTTCACGAAGAAATTCTTTGTTACAAGCTGCTATCCATGTCCAGGGCCAAACATGAATCCTATTGCTCTTGGGAGCCGCTGGCTTGCTTATGCAGAAAAC
AAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAACATTGAAAAGTGGCCTG
ACAATGGTAGGGAAAGTGGTGACTCAGCTGACAGGCACACTGCCTTCAGGTGTGACAGAAGATGATGTTGCCATCCACAGTAATTCACGGCGGAGTCCTTTGGTC
CCAGGCATCATCACAGTTATTGACACCGAAACCGTTGGAGAGGGCCAGGTGCTTGTGAGTGAGGATTCTGACAGTGATGGCATTGTGGCCCACTTCCCTGCCCAT
GAGAAGCCAGTGTGCTGCATGGCTTTTAATACAAGTGGAATGCTTCTAGTCACAACAGACACCCTTGGCCATGACTTTCATGTCTTCCAAATTCTGACTCATCCT
Show »
>BCAS3|54828|protein
MNEAMATDSPRRPSRCTGGVVVRPQAVTEQSYMESVVTFLQDVVPQAYSGTPLTEEKEKIVWVRFENADLNDTSRNLEFHEIHSTGNEPPLLIMIGYSDGMQVWS
IPISGEAQELFSVRHGPIRAARILPAPQFGAQKCDNFAEKRPLLGVCKSIGSSGTSPPYCCVDLYSLRTGEMVKSIQFKTPIYDLHCNKRILVVVLQEKIAAFDS
CTFTKKFFVTSCYPCPGPNMNPIALGSRWLAYAENKLIRCHQSRGGACGDNIQSYTATVISAAKTLKSGLTMVGKVVTQLTGTLPSGVTEDDVAIHSNSRRSPLV
PGIITVIDTETVGEGQVLVSEDSDSDGIVAHFPAHEKPVCCMAFNTSGMLLVTTDTLGHDFHVFQILTHPWSSSQCAVHHLYTLHRGETEAKVQDICFSHDCRWV
VVSTLRGTSHVFPINPYGGQPCVRTHMSPRVVNRMSRFQKSAGLEEIEQELTSKQGGRCSPVPGLSSSPSGSPLHGKLNSQDSYNNFTNNNPGNPRLSPLPSLMV
Show »
MNEAMATDSPRRPSRCTGGVVVRPQAVTEQSYMESVVTFLQDVVPQAYSGTPLTEEKEKIVWVRFENADLNDTSRNLEFHEIHSTGNEPPLLIMIGYSDGMQVWS
IPISGEAQELFSVRHGPIRAARILPAPQFGAQKCDNFAEKRPLLGVCKSIGSSGTSPPYCCVDLYSLRTGEMVKSIQFKTPIYDLHCNKRILVVVLQEKIAAFDS
CTFTKKFFVTSCYPCPGPNMNPIALGSRWLAYAENKLIRCHQSRGGACGDNIQSYTATVISAAKTLKSGLTMVGKVVTQLTGTLPSGVTEDDVAIHSNSRRSPLV
PGIITVIDTETVGEGQVLVSEDSDSDGIVAHFPAHEKPVCCMAFNTSGMLLVTTDTLGHDFHVFQILTHPWSSSQCAVHHLYTLHRGETEAKVQDICFSHDCRWV
VVSTLRGTSHVFPINPYGGQPCVRTHMSPRVVNRMSRFQKSAGLEEIEQELTSKQGGRCSPVPGLSSSPSGSPLHGKLNSQDSYNNFTNNNPGNPRLSPLPSLMV
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 (2) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) | | | AS | - (3-21) |
- >70 | ||
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.