HsaINT0148372 @ hg19
Intron Retention
Gene
ENSG00000143379 | SETDB1
Description
SET domain, bifurcated 1 [Source:HGNC Symbol;Acc:10761]
Coordinates
chr1:150900180-150902594:+
Coord C1 exon
chr1:150900180-150900450
Coord A exon
chr1:150900451-150902442
Coord C2 exon
chr1:150902443-150902594
Length
1992 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
TGCATGTGTTCCAATATTAGGGC
3' ss Score
7.16
Exon sequences
Seq C1 exon
AGGACAAAAGCATGTCTTCCCTTCCTGGGTGCATTGGTTTGGATGCAGCAACAGCTACAGTGGAGTCTGAAGAGATTGCAGAGCTGCAACAGGCAGTGGTTGAGGAACTGGGTATCTCTATGGAGGAACTTCGGCATTTCATCGATGAGGAACTGGAGAAGATGGATTGTGTACAGCAACGCAAGAAGCAGCTAGCAGAGTTAGAGACATGGGTAATACAGAAAGAATCTGAGGTGGCTCACGTTGACCAACTCTTTGATGATGCATCCAG
Seq A exon
GTGAGAACTCCATGGAAAATAGAAGGAAATCTCTCCATTGGGAGATGTTTTTAGAGAATAATTGTTCATGACATTGAACCAAGCATTTTATTTTATGTTTTGAGACGGAGTCTCGCTCTGTCACCCAAGCTAGAGTGCAGTGGAGTGATCCTGGCTCACTGCAACCTCCACCTCTCGGGTTCAAGTGATTCTCCCACCTCCCCCTCCCGAGTAGCTGGAATTATAGGCATCCGCCACCACACCCAGCTAATTTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTGTACCAAACATTTTATACTTTATGAAGTACAGATGTTTAGAACCTTACTCTTCCTCAAAGTTTATGGTCAAAAATCTGACCTTACAATCAGCCGTAAATATAATTTTCATCTGTCAGCAGCTAATACATGATCAGCAGTAAGGGAGTCCAAGTCTTAAGTCCTTTCCCCTTCTTCCTCCTGTGCTCTATCTTAGAACAATTGCTTCATTTCCCTAGTAAGATCATCCAGGGAGTGAGGATTGTAAAGAATTTCTGTCTTACGTAACTCTGAAGCATTAGTAAGTTCCCATACCCCCAAAAGATTTGTTTCTGGTGCTCTAGTTGTCACTTAGAATACATTGTTTTTAAATTTATTATACTTTAAGTTCTAGGGTATATGTGCACAACGTGCAGGTTTATTACATATGTATACATGTGCCATGTTGGTGTCACTTACATTAGGTATATCTCCTAATACTATCCCTCCCCCTTCCCCCCACCCCACGACAGGCCCCAGTATGTGACGTTCCCCATCCTGTGTCCAGGTGTTCTCATTGTTCAATTCCCACCTATGAATGAGAACGTGCGGTGTTTGGTTTTCTGTCCTTGCTATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCATGTGCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTCTTAATCCAGTCTATCATTGATGGACATTTGGGTTGGTTTAAAGTCTTTGCTATTGTGGATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCGCCACACTGTCTTCCACAATGGTTGAACAAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTGTTTCTCTACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGACGGTATCTCATGGTGGTTTTGATTTGCATTTCTCTGATGGCCACTGATAATGAGCATTTTTTTATTTTATTTTTATTTTATTTTATTTTTTTTTTAGACAGAGACTTGCTCTGTCTCACCCAGGCTGGAGTACAGTGACGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCGAGTTCAAGCAGCTCTCCTGTCTCAGCCTCCGGAGTAGCTGGGACGACAAGCGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTACCATGTCGGCCAGGCTGGGGAGGTCAAATTCCTGACCTCAAGTGATCTACCTGCCTCAGCCTCCCAAATTGCTGGGATTGCAGGTGTGAGCCACCACTGCCAGCCAGGATACATTTTCAGATAACAGCAAGGTAAATAATGAGGTAAGGGTGAAAGTACTGTACTTTGGGCTTACTTTGGATTTTTGAGGAACTAGTCTGGAAACTAAACCACTATTTAAAACATTTTTCTATAGAAAAAGCATTCTAAATTCTAAACAGAGACACTTTGGAATGTGGCCCATTTAAATTGAGGACTGTCTATACTTAAATATATATACATCGTAATGGATTCTATATCTCTTAATTCCTCTACTGGCTTTGACCTTTTCTGCATGTGTTCCAATATTAG
Seq C2 exon
GGCAGTGACTAATTGTGAGTCTTTGGTGAAGGACTTCTACTCCAAGCTGGGACTACAATACCGGGACAGTAGCTCTGAGGACGAATCTTCCCGGCCTACAGAAATAATTGAGATTCCTGATGAAGATGATGATGTCCTCAGTATTGATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379-SETDB1:NM_001145415:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.511
Domain overlap (PFAM):
C1:
PF058917=Methyltransf_PK=PU(54.5=52.7),PF094815=CRISPR_Cse1=PU(52.4=47.3)
A:
NA
C2:
PF058917=Methyltransf_PK=PD(44.3=76.5),PF094815=CRISPR_Cse1=PD(46.3=74.5)
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:
CCTTCCTGGGTGCATTGGTTT
R:
CCGGGAAGATTCGTCCTCAGA
Band lengths:
346-2338
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)