Special

HsaINT0039635 @ hg19

Intron Retention

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48602843-48603101:-
Coord C1 exon
chr3:48603069-48603101
Coord A exon
chr3:48602930-48603068
Coord C2 exon
chr3:48602843-48602929
Length
139 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
GCCCCTGCTCTTGGCTCCAGGAC
3' ss Score
9.4
Exon sequences
Seq C1 exon
CCTGCCAGGGCCAGTTCATCGCATCTGGATCAC
Seq A exon
GTGAGTAGTTTTCTACTCCCAGAACTTTCTTCACCCCAGGCCCTGCCCTGCCTATCAACTGGGGTCCTCTCAGGGGGGTTGGCTGGGATGGCTGCCCATGGTGACTTCAGGGCCCTGAGGCCCCTGCTCTTGGCTCCAG
Seq C2 exon
GACCCCTCCCTAGTTATGCTGCAGACACTGCCGGCTCCCAGCTCCATGCTGTGCCTGTGCTCCGCGTCTCTCATGCAGAGGAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:114
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.583 A=NA C2=0.967
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGGCCAGTTCATCGCATC
R:
TCTGCATGAGAGACGCGGAG
Band lengths:
107-246
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