HsaINT0039704 @ hg19
Intron Retention
Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48613059-48613335:-
Coord C1 exon
chr3:48613300-48613335
Coord A exon
chr3:48613182-48613299
Coord C2 exon
chr3:48613059-48613181
Length
118 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
3' ss Seq
GACCTCTTGCTGTCCCTCAGGCA
3' ss Score
8.77
Exon sequences
Seq C1 exon
AATGTGGATCGGTTGCTGGAAACTGCTGGCATCAAG
Seq A exon
GTGGGTTGTTTAGGGGCTGGGGGTAGGGACAAGTGGGGGCCCTTGGGGCTAGTGGTGCCCACAGGCATAGGGGCTGCGGCGACGCACCCCGCTCCTCTGACCTCTTGCTGTCCCTCAG
Seq C2 exon
GCATCTGCCCTGCGGGAGATCGTGGAGACCTGGGATGAGAGCTCTGGTAGCTTCCTGCCTGTGCCCGAACGGCGTCGAGGCCCCAAGGGGGACTCAGGCGAACAGGGCCCCCCAGGCAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:71
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=PD(0.1=0.0)
A:
NA
C2:
PF0139113=Collagen=PU(21.9=39.0)
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:
AATGTGGATCGGTTGCTGGAA
R:
GGGCCCTGTTCGCCTGAG
Band lengths:
146-264
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)