HsaINT0039621 @ hg38
Intron Retention
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48569375-48569648:-
Coord C1 exon
chr3:48569592-48569648
Coord A exon
chr3:48569447-48569591
Coord C2 exon
chr3:48569375-48569446
Length
145 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
TCTTACCCAAACCAACCCAGGGT
3' ss Score
2.93
Exon sequences
Seq C1 exon
GGAGACTCAGCTGTGATCCTGGGGCCTCCAGGCCCACGGGGTGCCAAGGGGGACATG
Seq A exon
GTGAGTGGGCCCACGTGTGGACTGGGTCTCCCCTGGGTGCGAGAGGGACCCCGTGGGGCTGGCCCAGGGCATCTGAGAGCTCAAACTCCCAGAGGGTGAGGGACCTTCAGCCCCTTACCGTGACTTCTTACCCAAACCAACCCAG
Seq C2 exon
GGTGAACGAGGGCCTCGGGGCTTGGATGGTGACAAAGGACCTCGGGGAGACAATGGGGACCCTGGTGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270:ENST00000328333:101
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(6.8=21.1),PF0139113=Collagen=PU(20.3=63.2)
A:
NA
C2:
PF0139113=Collagen=FE(39.0=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:
AGACTCAGCTGTGATCCTGGG
R:
CTTGTCACCAGGGTCCCCATT
Band lengths:
127-272
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