| Tbio | AT-rich interactive domain-containing protein 1B |
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388).
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Coffin-Siris syndrome | 17 | 6.76 | 3.4 |
| Carcinoma, Hepatocellular | 228 | 0.0 | 0.0 |
| Neuroblastoma | 80 | 0.0 | 0.0 |
| Neurodevelopmental Disorders | 70 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Liver carcinoma | 240 |
| Nicolaides Baraitser syndrome | 2 |
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3578 | 6.7e-12 |
| pituitary cancer | 1972 | 9.6e-07 |
| osteosarcoma | 7950 | 1.5e-06 |
| glioblastoma | 5792 | 7.5e-06 |
| ependymoma | 4679 | 9.7e-06 |
| ovarian cancer | 8520 | 3.0e-05 |
| medulloblastoma, large-cell | 6241 | 7.4e-05 |
| Astrocytoma, Pilocytic | 3081 | 2.9e-04 |
| Pick disease | 1894 | 7.0e-04 |
| adult high grade glioma | 3801 | 7.7e-04 |
| invasive ductal carcinoma | 2951 | 4.4e-03 |
| progressive supranuclear palsy | 676 | 9.2e-03 |
| group 3 medulloblastoma | 4104 | 1.2e-02 |
| spina bifida | 1074 | 3.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Autism spectrum disorder | 101 | 3.061 | 1.5 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 1016 | 4.545 | 2.3 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Craniosynostosis | 74 | 5.005 | 2.5 |
| Hypertrichosis | 46 | 4.214 | 2.1 |
| Acrocephalosyndactylia | 17 | 4.049 | 2.0 |
| Obstructive sleep apnea | 26 | 3.188 | 1.6 |
| LADD syndrome | 9 | 3.067 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.300 | 7.7e-04 |
| Astrocytoma, Pilocytic | -1.100 | 2.9e-04 |
| Breast cancer | -1.300 | 6.7e-12 |
| ependymoma | -1.200 | 9.7e-06 |
| glioblastoma | -1.300 | 7.5e-06 |
| group 3 medulloblastoma | 1.100 | 1.2e-02 |
| invasive ductal carcinoma | -1.100 | 4.4e-03 |
| medulloblastoma, large-cell | -1.200 | 7.4e-05 |
| osteosarcoma | -1.194 | 1.5e-06 |
| ovarian cancer | -1.400 | 3.0e-05 |
| Pick disease | 1.100 | 7.0e-04 |
| pituitary cancer | 1.100 | 9.6e-07 |
| progressive supranuclear palsy | 1.100 | 9.2e-03 |
| spina bifida | -1.033 | 3.4e-02 |
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLK 1 - 70 TVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSL 71 - 140 GGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGT 141 - 210 QQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSM 211 - 280 DPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAA 281 - 350 GGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLN 351 - 420 QLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAW 421 - 490 AAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPI 491 - 560 GIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQD 561 - 630 MSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQS 631 - 700 NPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQ 701 - 770 SPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNY 771 - 840 SRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGM 841 - 910 SQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQ 911 - 980 APPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYEL 981 - 1050 GNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGT 1051 - 1120 SSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSM 1121 - 1190 AEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRM 1191 - 1260 PYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYG 1261 - 1330 QQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSG 1331 - 1400 PDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGG 1401 - 1470 PTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRA 1471 - 1540 PSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQR 1541 - 1610 RKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLID 1611 - 1680 IFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSI 1681 - 1750 ALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTH 1751 - 1820 FESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKF 1821 - 1890 PFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVL 1891 - 1960 ILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTES 1961 - 2030 ICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYA 2031 - 2100 TLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQ 2101 - 2170 PPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL 2171 - 2236 //
