HsaINT1015686 @ hg38
Intron Retention
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130398608-130399632:+
Coord C1 exon
chr9:130398608-130398707
Coord A exon
chr9:130398708-130399510
Coord C2 exon
chr9:130399511-130399632
Length
803 bp
Sequences
Splice sites
5' ss Seq
CCGGTAACG
5' ss Score
7.34
3' ss Seq
CGTCTGTCTGTCCACCCCAGGCT
3' ss Score
8.6
Exon sequences
Seq C1 exon
CCTTGCTGCCCTGCGAGGCCAGCGGCTCCCCTAAGCCCCTGGTGGTCTGGTGGAAGGACGGACAGAAGCTGGACTTCCGCCTGCAGCAGGGCGCCTACCG
Seq A exon
GTAACGAGCTGGACTTTGCGGTGGCTTCCTGAGACGCACAGGGCGGGGAGGCACTCTCTTCTCACGGGGGCATGGGGCAGGGACGGGGCGGGGTGTGCTCAGGTCTCACCGGAGTCAGGACCAGAACTTGTGTCTCAACTTTGGGGATCAGAGAGTCTTCACACTGAGATAGGGGTGAGGGCACTGGGGATATACAGCTAAACAGAGACATCTGGGCTTTATTTATATCCACCAGAGTCACTCTTGTCTAAAAACAAAACATGAACTGGGTGTGGTAGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGACTGGGCAACATAGTGAGACCCCATCTCTACAGAAAATTTAAAAATTAGTAGAGTATGGTGGTGGGTGTCTGTGGTCCCAGCTACCTGGGAGGCTGAGATGGGAGGATCCCCTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAGAATGTCCATTTTTAAAAATTGGAAAACCAATGTACAGAGAAACAGGGATGAAAACGAAAATCACTCAAAAATCCACCAGCTAGACCTGTGGGGCAGAAACTTCTAGAAGACATTTCTAGAGTCAGGGCTGGAGGTCAGATACAGGAAGGGGAAATGGGCGTGAGACCCCCACAGCCAGAAAGCCACAGCTGGTCTCTGTCAGCCCAGCAGCCACTTGGCCGTCTGTCTGTCCACCCCAG
Seq C2 exon
GCTCCTGCCCTCCAACGCCCTGCTCCTCACGGCCCCCGGCCCCCAGGACTCAGCCCAGTTTGAATGCGTGGTGAGCAATGAGGTGGGCGAGGCCCACAGGCTCTACCAGGTGACCGTCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357:ENST00000624552:75
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:
PF0767911=I-set=FE(44.6=100)
A:
NA
C2:
PF0767911=I-set=PD(52.7=92.9)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCCCCTAAGCCCCTGG
R:
CATGGACGGTCACCTGGTAGA
Band lengths:
198-1001
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains