HsaINT0039723 @ hg38
Intron Retention
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48572127-48572421:-
Coord C1 exon
chr3:48572380-48572421
Coord A exon
chr3:48572172-48572379
Coord C2 exon
chr3:48572127-48572171
Length
208 bp
Sequences
Splice sites
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
3' ss Seq
CTCCTGACCTCTGTCAACAGGGA
3' ss Score
9.08
Exon sequences
Seq C1 exon
GGAGCCCCTGGAGGCCTTGCTGGAGACCTGGTGGGTGAGCCG
Seq A exon
GTAAGTAGGGAACTTCTGACAGCAGATGTTCTGGGGGTCCTGTCTCTCCAGTGGCCTAACTTCTGACCTTCGACCCATAGTTTACCCACCCTCATGACCCTCAGCTTTCATAGTAGACCGCATATTTAAGCTCTGGCCCCATGCCTCCCTCCGGAGTCTCATCTTTCTGTGACTGATGCCTGTGTTGCCTCCTGACCTCTGTCAACAG
Seq C2 exon
GGAGCCAAAGGTGACCGAGGACTGCCAGGGCCGCGAGGCGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270:ENST00000328333:89
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(12.3=57.1),PF0139113=Collagen=PU(15.5=64.3)
A:
NA
C2:
PF0139113=Collagen=FE(24.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development