HsaINT0039667 @ hg38
Intron Retention
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48583718-48583953:-
Coord C1 exon
chr3:48583900-48583953
Coord A exon
chr3:48583781-48583899
Coord C2 exon
chr3:48583718-48583780
Length
119 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAGG
5' ss Score
9.35
3' ss Seq
TTTTACTCACTTCTTCCTAGGGT
3' ss Score
8.42
Exon sequences
Seq C1 exon
GGTCCCCCTGGACCAGGTGAAGGTGGCATTGCTCCTGGGGAGCCTGGGCTGCCG
Seq A exon
GTGAGGGGCCTTGAGGCTCTGCTGGGGGCCCTGCTCAGGGGTGTGGGTCTCTCCTGGGGCAGTGGTTGGGTGCTGGGCTTCATAGTTCTTGGCTCATATTTTTACTCACTTCTTCCTAG
Seq C2 exon
GGTCTTCCCGGAAGCCCTGGACCCCAAGGCCCCGTTGGCCCCCCTGGAAAGAAAGGAGAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270:ENST00000328333:38
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(8.5=27.8),PF0139113=Collagen=FE(30.4=100)
A:
NA
C2:
PF0139113=Collagen=FE(35.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCAGGTGAAGGTGGCATTG
R:
TTTTCTCCTTTCTTTCCAGGGGG
Band lengths:
106-225
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