HsaINT0039666 @ hg19
Intron Retention
Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48621333-48621494:-
Coord C1 exon
chr3:48621468-48621494
Coord A exon
chr3:48621387-48621467
Coord C2 exon
chr3:48621333-48621386
Length
81 bp
Sequences
Splice sites
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
3' ss Seq
GACCTGCTGTTCTCTCCCAGGGT
3' ss Score
9.88
Exon sequences
Seq C1 exon
GGTGACAAAGGCGATCGTGGGGAGCGG
Seq A exon
GTAAGTGAGGGACAGGTTGTGCTAGGGGTGGCTTGGAGTCTGATTCCCCTGTTCATTCCCTGACCTGCTGTTCTCTCCCAG
Seq C2 exon
GGTCCCCCTGGACCAGGTGAAGGTGGCATTGCTCCTGGGGAGCCTGGGCTGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:37
Average complexity
IR-S
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=FE(13.6=100),PF0139113=Collagen=FE(14.3=100)
A:
NA
C2:
PF0139113=Collagen=PD(8.5=27.8),PF0139113=Collagen=FE(30.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGACAAAGGCGATCGTGGG
R:
CAGGAGCAATGCCACCTTCAC
Band lengths:
63-144
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)