HsaINT0016853 @ hg19
Intron Retention
Gene
ENSG00000123636 | BAZ2B
Description
bromodomain adjacent to zinc finger domain, 2B [Source:HGNC Symbol;Acc:963]
Coordinates
chr2:160287374-160289874:-
Coord C1 exon
chr2:160289268-160289874
Coord A exon
chr2:160287668-160289267
Coord C2 exon
chr2:160287374-160287667
Length
1600 bp
Sequences
Splice sites
5' ss Seq
CAGGTTATT
5' ss Score
3.49
3' ss Seq
ATGCTTCTTTTACTTCCCAGAAT
3' ss Score
7.99
Exon sequences
Seq C1 exon
GAACAATATAAACAGGCATTCCCATCACAGTTAAAGAAACAAGAGTCATCGAAGAGCCTGAAGAAGGTTATTGCAGCTTTGTCAAATCCAAAAGCAACCTCTAGTTCACCAGCACATCCAAAACAAACATTAGAAAACAACCACCCAAATCCATTCTTGACAAATGCACTTTTAGGTAATCACCAACCAAATGGAGTTATTCAAAGTGTCATTCAAGAAGCTCCTCTAGCACTTACTACCAAAACTAAAATGCAGAGCAAGATTAATGAAAACATTGCTGCTGCAAGTAGCACCCCTTTTTCCTCACCTGTAAATCTGAGTACAAGTGGGAGAAGAACCCCTGGCAATCAGACACCTGTAATGCCCTCTGCCTCTCCCATCCTGCATAGTCAAGGGAAGGAAAAAGCAGTTAGCAATAATGTAAACCCAGTAAAAACACAGCATCACTCCCATCCTGCAAAATCTTTAGTGGAACAATTCAGAGGAACAGATTCAGACATTCCCAGTAGTAAAGATTCTGAAGATTCAAATGAGGATGAAGAGGAAGATGATGAAGAAGAAGATGAGGAAGATGATGAAGATGATGAATCTGATGACAGCCAATCAG
Seq A exon
GTTATTTTCATTTTAAAATTTAAAGTATTTCTCTAAATGCTATGTGAACCAAACATTTTAAAGGGTTTCTTAATTCAGACTTAAAATCAGCGTCATTTACTATGTTTCACACAACTTTGTGCATTTCTATAATGAGCTCATAAAATACAGGAGTAATTGATACTGGAAATCCTAAGTCAGATTCTCAGCTTGTTATTCATTTGACATTAAACAAATAATCACTTTAGGGTGAATACAAATGATGCATAAATTAAGACATAATTTCATCAACTTGCTTAATTTTTATTTCATTCAGGACCACTCTTTTTTCATTTCTTCTGCTACTTGTTAAAATGCATCACCAGCTGTTTTGAACACAGATAAAATTATAGTCGTCATTCAGAAAGTACCAAAAACCTAAATCTCTATGAATGTTCATCAATAACAGAAAATTTGTTAAATAACATATAGAGGACTCTCTGATTTAATTTTGAGTCACTTTTTTTTTTCTTTTTGCTGGGTCTAGGGTTAACTTCTTTGCATTTTTATTTTCCTTCCCTCTCCTCATTCCACAGAAGACTGAAAACATAAAATACAAGAGAGCTTAAATTGCGAATACAAAAATGAAATACATATTATAAATGTTTGTGGATTTGTTACTGGTCAACTACAGATTCAACTAATTTTTTTTAGCAGCTAATATGAATAGGAAAATATACTCAGCTGTACAATTTAAAGTGTCTGTAAGTTAAAAACAAACTTCGTGCTCAGGGTAAAACCACTCTTCCTGGGGTTTCCATAAAACAACTTTGTATGATAGATCATAAATATCAATATTCATAACTTTCAAAACTAACTTTTATAATGAATTTCAATATAGGCAAATGGTATAACACAAACCAGAATTCCACAGAAGCTATTGTACCGTGAACTATGAGGAAACAGTCTAAGTATCACTCCTGTGTTTATCAAGTTTAATCTAGTAATAGATTTTACATATGTAGAGGAATGGATGCATCATACATAGAACTACGTAGCTAGAACAAACTTAAATTATTGAATTATCCTACTATAATTATTTCTGTAAGCCTGGTTTTTTGAGAGGCCTGAAAAGCCTGATGAAGTCTTGTATGTAAATAGAAAAACTGCAGCCAAAAGACCAAGAATCTCCTGTTGAAAATTGTCTTCTTTTACTCCAAAGCCCAAATGGAAGTATGCTGGTAGTTTCAGATTTCTCTTTCTCATATTTGACTTACTGTACTTCATAAGCCATTGGAATCTGTTCATTTGAACAGTCAATTTAATCCCCTCTTTTACTTTAGTTTCTCTGTTAAATAAAAAATTATTTTGATGCCATTAAGCAGAACTCATCATGTGAATAGTGTCACATGAGAACTGTTTAAAGTGTTGAGTAAAACTTACACTTAAAAAATTGTTTTTGAAGATTGATAGCCTAAATACACTGTTCTCAAATAGCTTATAACATTTACTCTGTAGGAAAATTGCTCATTTGAGTTCTCATTCACAGGTGCTGGTTCCTGAGCTAGTCCATTTAGATACAAACTGCAAATTATTGGTGATTATCTAGTTATAATATACAAATGCTTCTTTTACTTCCCAG
Seq C2 exon
AATCAGATAGTAATTCAGAATCAGATACAGAAGGATCAGAAGAAGAAGATGATGATGATAAAGACCAAGATGAATCAGATAGTGATACTGAAGGAGAGAAAACTTCAATGAAACTGAATAAAACAACTTCCTCTGTCAAAAGCCCTTCCATGAGTCTCACAGGTCACTCAACACCTCGTAACCTCCACATAGCAAAAGCCCCAGGCTCTGCTCCTGCTGCCTTATGTTCTGAATCCCAGTCACCTGCTTTTCTTGGTACATCTTCTTCCACACTTACTTCAAGCCCACACTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123636-BAZ2B:NM_013450:9
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.952 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF027249=CDC45=PU(51.3=93.8),PF054707=eIF-3c_N=PU(37.3=87.7),PF041477=Nop14=PU(46.8=89.2),PF032479=Prothymosin=PU(77.5=84.6)
A:
NA
C2:
PF104464=DUF2457=FE(52.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATCACTCCCATCCTGCAAA
R:
CGAGGTGTTGAGTGACCTGTG
Band lengths:
345-1945
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)