HsaINT0148389 @ hg19
Intron Retention
Gene
ENSG00000136169 | SETDB2
Description
SET domain, bifurcated 2 [Source:HGNC Symbol;Acc:20263]
Coordinates
chr13:50055083-50057098:+
Coord C1 exon
chr13:50055083-50055252
Coord A exon
chr13:50055253-50056872
Coord C2 exon
chr13:50056873-50057098
Length
1620 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
3' ss Seq
CTTTAACATTTTCCTTTTAGGAA
3' ss Score
10.16
Exon sequences
Seq C1 exon
CATTTATGAATGCAGCCTTTTGTGCAAATGTAATCGACAATTGTGTCAAAACCGAGTTGTCCAACATGGTCCTCAAGTGAGGTTACAGGTGTTCAAAACTGAGCAGAAGGGATGGGGTGTACGCTGTCTAGATGACATTGACAGAGGGACATTTGTTTGCATTTATTCAG
Seq A exon
GTAAAGCAAAAGTTTATTTTCAAATTATTCTAGAGTAGAATCCACTTTTCTAAATATCCATTTTCCTAGCCAGGGCTGTTGAGAGCTTACAGCAAGGTAAAGAGTAACAGTATCTAAGAGGAACATCAGAGAAAGGCAGGTAAACTGGGAACTTGAGCACTAAAGAGATGAGATGCTTAGGAGGTACTTTCTTCAAGAAAAGAAAGGTTCAGAGATGACACTTGGGTTTTTGTGTGAGGGCCTGTTACGTACAAGGCACATTTGTTTTGTCTGCATGGCTACAGGTACTTTGGGGTAAGGGAATAAAACTTGTTAAAAGTAAAAAAAAAAACTAAATGACTGGCTTGCCAAGGTAAAGATGACCAGTCAAAAACTTTCTTATTCAATGTTTTGAGCTATTATTAGAATTTAACAAGTTAATTATGTAATATCTGCATGTTATAATTCAGTCAGTGACTTTAGGCAACTCACTCTATTTTGGGGACTGCAGAGAGTTGTCCATGCTGCAGAGCAAAACTTCCCGAGCAGTGTGTTACAGTCATGCAATTACTGATTCTTTAGGGCCACAGCCCCCAGGGCCAAACACATCAGTCTTCAGTAGTCTTACACATTTACCTCCAGCATGTCAGGCAAAATCCCTTATTTTCTGTGCACATCCTTCTGTGAGAAAGTTTGGGAAACACGGCTTTAGAGCCAGTCTAAAGGAATTGTCCTTGACTTATTTTAGCAGTTAGGCATCAGGGAAAAGAACAACCAGGTTCTGAAAATTACTCATCTGAAAAATCAGGTTTAATCTGTTTACATGACCATGTGCTTAGAAAAGAAATATCAGGTTCACATCAGGGAGGGCAAGAAGAAGCTTGCAGAGTTCAGAGTAGTCACACGTATGGATCCCTGCCACTCCCCATTTACAGATCCACATTCTACACATCCTGCCTAGACGTTCATCTCTCATACTTCTCAAAATAACTCTTGGATGAAAGCTACCTGTAAAATGCCAGGTGGTGTCCAGGAAGTATCATTGGTTTTATCGTTGTTGCTGGAAAATGTAACTAAGATATGTCTCCGATCTAACAATGGGTAAGAATATCCTGCTATTAATTTGGACTTGGCAACTATAATATTGAATCCCTTGAAAGAAAATGCATGAACTTTAGACCAAGATTTTAGTGTTATGCAGAACTTAATATGACAACACTAAGAACATATCACCACATATTTAAATAGGTACTTTTGTTAAAAATTTTAAGTTTCAGATGATAACGCCTTTTTAACTAGACATAAAAGCTACAATTTTATGGCTAGAGTCATCTCTCTAATTTTCTAGAGTACTTTCTCATCCATATCTTTTTGTATCATTCTAGCTAAATCTCTTCTCTTTTGTATTATACCAAAACAGACAAATGGTTTTTTTTTAGATACCCTGTTTTTTCATATACTGGAAGATAAGAAATATCACATTGGTCTTTGTCTTGCAACAGTTTTGTAGGATGAGTTAATGTGTTTATCTTCATTGTAGAATGTGTGGGTTCTTTAGTCATGGAGTAGAAATAGAGATGTCTGTTTATCATTAGCAATTATCTTCTGTGTTGTTCAAACTCTTTAACATTTTCCTTTTAG
Seq C2 exon
GAAGATTACTAAGCAGAGCTAACACTGAAAAATCTTATGGTATTGATGAAAACGGGAGAGATGAGAATACTATGAAAAATATATTTTCAAAAAAGAGGAAATTAGAAGTTGCATGTTCAGATTGTGAAGTTGAAGTTCTCCCATTAGGATTGGAAACACATCCTAGAACTGCTAAAACTGAGAAATGTCCACCAAAGTTCAGTAATAATCCCAAGGAGCTTACTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-SETDB2:NM_001160308:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.373
Domain overlap (PFAM):
C1:
PF0503311=Pre-SET=PD(15.7=31.0),PF0085623=SET=PU(12.2=34.5)
A:
NA
C2:
PF0085623=SET=FE(45.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGCCTTTTGTGCAAATGT
R:
TGGTGGACATTTCTCAGTTTTAGCA
Band lengths:
354-1974
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)