HsaINT1015705 @ hg38
Intron Retention
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130427497-130428489:+
Coord C1 exon
chr9:130427497-130427619
Coord A exon
chr9:130427620-130428357
Coord C2 exon
chr9:130428358-130428489
Length
738 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
CTGCCCTGATCTGCCCCCAGATG
3' ss Score
10.46
Exon sequences
Seq C1 exon
ACAGGGACGAGTGCTCAGGAGGCCCTAGCCCCTGCTCCCATGCCTGCCTTAATGCACCCGGCCGCTTCTCCTGCACCTGCCCCACTGGCTTCGCCCTGGCCTGGGATGACAGGAACTGCAGAG
Seq A exon
GTGAGGGAGCTGCCGGGAGGAGGGAGGAGACGCGCTCCTCAGACCTGACCCAGGTGTGCAGAAGGGTCCCCAGGGCCAGGACCCTGGCTGGGGACACAGACCTGCAGGGATGGCCAATTCTTGAGGGTTTTGATGTCAGCCTGGGGGTCCCAATGCTATGTCCCCACCAGGCTCCTTCTTGCTATGGGAGCTGCAGATGAATGAGGCCCAGGTATCAGGGGGTGATGGGCAGCCCCAGAGACATATGGGCGGCTACACATGCTCACCGCATTCTGAACCTGAACAGGCCTCGGAAGCTCTCCCAACACTCAGCATCATTTCCAATTGACTGAGACTGGCAAGTGAGTTGTCCCCCTCAGCAATGTTGCTGGATGACAAATCTGACCTCAGGTGATGGTGCTGACGCTGACCCCCAGTCTGCATCCCTGCACTCCCACCGGGAGGGCCTGGTGCTGCCAAGTCTCCGCTGGGCTCCAAGCCGGGTGCCCAAGGGGACGTTGTCTGCAGCCTTGCATTGGAAGCTGCAGGCCCAAGGACTCGGGTCCCTTGGAGTGGGCCCTATGTTTTGGGATAGGGAGCAAGACAATGGAAAGAGCTAGCAGAAGGGGTGGGGACCTTCCTGCCAGTGGCTCCTGGGCCTGCGGACGAAGCCTCTGTGGATAGGCCGGGCCAGGGTCAGGTGGCGAGGCACGCCTGGGGATCATGTTCACACAGCCGTCTGCCCTGATCTGCCCCCAG
Seq C2 exon
ATGTGGACGAGTGTGCGTGGGATGCTCACCTCTGCCGAGAGGGACAGCGCTGTGTGAACCTGCTCGGGTCCTACCGCTGCCTCCCCGACTGTGGGCCTGGCTTCCGGGTGGCTGATGGGGCCGGCTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357:ENST00000624552:92
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:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.6),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:
CAGGGACGAGTGCTCAGGAG
R:
CTTCACAGCCGGCCCCAT
Band lengths:
254-992
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains