HsaINT1015704 @ hg38
Intron Retention
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130427313-130427619:+
Coord C1 exon
chr9:130427313-130427375
Coord A exon
chr9:130427376-130427496
Coord C2 exon
chr9:130427497-130427619
Length
121 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
3' ss Seq
CAGACCCCTTCCTGCCCCAGACA
3' ss Score
6.58
Exon sequences
Seq C1 exon
AGGAGAACGAGGTCGGCTGCCCCGAGGGCTTTGAGCTGGACTCCCAGGGAGCGTTTTGTGTGG
Seq A exon
GTGAGCGCCCCCAACCCTGGCATGGATGTGGGAGGCCTCTCAGCCTGGGATGGATGGCTTCTCCCAGCCAGCTGGCAGGAGGGCCTGGGAGCGGAGACCACCAGACCCCTTCCTGCCCCAG
Seq C2 exon
ACAGGGACGAGTGCTCAGGAGGCCCTAGCCCCTGCTCCCATGCCTGCCTTAATGCACCCGGCCGCTTCTCCTGCACCTGCCCCACTGGCTTCGCCCTGGCCTGGGATGACAGGAACTGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357:ENST00000624552:91
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAGAACGAGGTCGGCTG
R:
CTCTGCAGTTCCTGTCATCCC
Band lengths:
186-307
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains