HsaINT1015709 @ hg38
Intron Retention
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130431367-130432555:+
Coord C1 exon
chr9:130431367-130431486
Coord A exon
chr9:130431487-130432428
Coord C2 exon
chr9:130432429-130432555
Length
942 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGC
5' ss Score
7.75
3' ss Seq
TCACCAACTTCCCCATCCAGACA
3' ss Score
7.23
Exon sequences
Seq C1 exon
ACCTTGACGAGTGCCGCGTGAGGAACCTGTGTCAGCACGCCTGCCGCAACACTGAGGGCAGCTACCAGTGCCTGTGCCCCGCCGGCTACCGTCTGCTCCCCAGCGGGAAGAACTGCCAGG
Seq A exon
GTGAGCCGGGCTCAGGCCGCCGCCCAAACACCCGTGGGGCTAGGGCAGGCAGCGTGGGATGGGACATGTGGCATCTTACCTACTCCGTTCACTCCAGCCCCTTCACAACTATCCTGTGAGGTGGGGCGGGGAGGCAGGCTCAGAGGGGTTCTGTGAACACCCCAGGCTCCCACAGCCACGCCAGGGCCCATGCTCCAAACAGGAGCTCTGAGATCACGCGGGCAGGCTCTGAAAGCAGCCCTGCAAGGCCAATCCTAGCACTGCTGTGTGTCCCTGGGAAACTCACTTCACCTCTCTAAGCCTCCGGCCTCCTGGTTAAATGGGGCTAGCACAGTCCCCTCTCAGATAGCTGGGATGAGAGCTGTGGAGGTTGAGCACAGAGCCGCACAGCTGCTGCTGCTGGTATAGTAAGTGCCTCTAACTCCCAAACCGGGCACAGTTTCCCTGGTGTGCACAAACGGGGCTGGGGCCGGTCATGCTGCTTCCTCCACTCTAAAGAACAGGAACCATGCCTGCCCTGCCTGTCTCTGTCCCTCATGCTGCCATGGAGGTCACTGAACATCCTCTGAGAAGGGTGGGGCTTCCACTGAGGAAGACAGGATCAGGGGCTCTGCCCGTGGGCAGTGGGCACTCTGGGTCTTCGGGCAAAGCAGCCACCCAGGGAAAGCCCCATCTCTCCCAGGCCCTCCTACCCAGCACTTGCTCAGGAGGCCCCCACGGTGCCCACCTACACGCCCTGGAAAGCCCTGGCCCCCCGAGGGAGATGAGAAGGTGCTGCGGGCCTCCAGCTGGGTGGTCATGGGTCAGACTGGCTGGGGACAAAGGGAGAAGGGCTGCCCACCTCACTGGTCCCCCAAAGGTACTTCTCCCCACGCACTCCCCCCTTCTCCTTTGCTCCATCTTTTCATCTCCCTCCCCCGCTTCACCAACTTCCCCATCCAG
Seq C2 exon
ACATCAACGAGTGCGAGGAGGAGAGCATCGAGTGTGGACCCGGCCAGATGTGCTTCAACACCCGTGGCAGCTACCAGTGTGTGGACACACCCTGTCCTGCCACCTACCGGCAGGGCCCCAGCCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357:ENST00000624552:96
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.011 A=NA C2=0.349
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=96.0)
A:
NA
C2:
PF126622=cEGF=PD(12.5=7.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGACGAGTGCCGCGTG
R:
GTAGGTGGCAGGACAGGGT
Band lengths:
225-1167
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains