HsaINT1015706 @ hg38
Intron Retention
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130428358-130429685:+
Coord C1 exon
chr9:130428358-130428489
Coord A exon
chr9:130428490-130429556
Coord C2 exon
chr9:130429557-130429685
Length
1067 bp
Sequences
Splice sites
5' ss Seq
AAGGTGATG
5' ss Score
5.22
3' ss Seq
ACCATGCCCCTGCCTCCCAGATG
3' ss Score
8.65
Exon sequences
Seq C1 exon
ATGTGGACGAGTGTGCGTGGGATGCTCACCTCTGCCGAGAGGGACAGCGCTGTGTGAACCTGCTCGGGTCCTACCGCTGCCTCCCCGACTGTGGGCCTGGCTTCCGGGTGGCTGATGGGGCCGGCTGTGAAG
Seq A exon
GTGATGGGGGCACAGCATGCGGCCTGTCCATACTCCTGGAAACCCAGAGGTTGCCAGGGATCAGCTGACAGGGGGCTGTGTGTCACTGGGCTCTGGGCTTCCAGGAAGACTGGGACTCTTGGCAGAAGGAGTACAGCAAGGCTGGGGACAAAGCCTGCGCCAGGCTCTGGAGGTCTGAGCCCTCCCCTGGCTCCTGGCAGCTGGCACCTTCTTTGACAGGGGTGTTTTCTTTCTGCACCTCAGCATCTTGTCTGCTTGATAAAGAGGGAGCCAGGTCAGGGATGGCAAACACATGCTCCCTCTGCTGCCATCCGTTCTGTTCCCCCATATGAATCAAGGCCCAGCTAGAGACCACCTCTGAATCCTTCTTGACGCAGCAGCCCCTGCAGCCACAGTGGAACAGGTTCAGTCAGCCTTTGAGATAAAACTTAGGTGCCACCCCTGGATGGGTGACCTCAATGGTCCTTCCTGCTCTAACAGTCTATGGCTGTAGGACCGTGGGTCCACCCGGCTCCTCTGAGAGACTGCACGGTGGAGAGGGAAGCATGGTGGAGCCTGACCCAAGGGGATCAGCCATCGCACCTCTGTGGCCCCCAGGGCCCTTGGAGTGCCCGACAACTCACCGGGCTCTCCTGCCTGCCGCCCTTCCTGCCGCCTTTCCTCCTTTCTCACCACTTTCTTAGCTCTTCCCACATACCAGGCTCCCCTCCTCACCACGACCCCATGAAGAGGTCACATCTTTACCCTCTTTATGGATGAGGAAACTGAGGCTCAGAGAGGGAGAGTTCCTTGCCCAAGGGCTAGAATATGGAGAGCTCAGCGGAACCCAGGACTCTGCCCACAAAGGGCCTTTCAGCCCCTTCCTTTCTCTGGGACCTGGAACCCTGTTGACCTCCAACCTGGTATAACTGGGGGAGGTGCTGTGAGGGCGGCCATGCAGCCTGGTGGCACTGAAACTGGAGAAGGGGACAGGGAGGAGGCCCAGATATGGAGGGGGATGGTCCGTCCCTTGGGGGAGGGGCCCTGGGCTAGACCTCCCCACCACCGACCATGCCCCTGCCTCCCAG
Seq C2 exon
ATGTGGACGAATGCCTGGAGGGGTTGGACGACTGTCACTACAACCAGCTCTGCGAGAACACCCCAGGCGGTCACCGCTGCAGCTGCCCCAGGGGTTACCGGATGCAGGGCCCCAGCCTGCCCTGCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357:ENST00000624552:93
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:
PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACGAGTGTGCGTGGGATG
R:
CTAGGCAGGGCAGGCTGG
Band lengths:
256-1323
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains