HsaINT0148372 @ hg38
Intron Retention
Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150927704-150930118:+
Coord C1 exon
chr1:150927704-150927974
Coord A exon
chr1:150927975-150929966
Coord C2 exon
chr1:150929967-150930118
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:ENST00000271640:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=NA C2=0.505
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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