Special

HsaINT0039645 @ hg19

Intron Retention

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48626075-48626428:-
Coord C1 exon
chr3:48626303-48626428
Coord A exon
chr3:48626222-48626302
Coord C2 exon
chr3:48626075-48626221
Length
81 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGG
5' ss Score
9.26
3' ss Seq
CTGTATGCCCACCTGGCCAGGCG
3' ss Score
4.57
Exon sequences
Seq C1 exon
CCCCTGAGCCTGTGGGTCGTGTGTCGAGGCTGCAGATCCTCAATGCTTCCAGCGACGTTCTACGGATCACCTGGGTAGGGGTCACTGGAGCCACAGCTTACAGACTGGCCTGGGGCCGGAGTGAAG
Seq A exon
GTATGGCTCCCTGACGCCACCCCTGTCCTTCCTGGCTGGGACTGCTCACCCCTAACCATTGCTGTATGCCCACCTGGCCAG
Seq C2 exon
GCGGCCCCATGAGGCACCAGATACTCCCAGGAAACACAGACTCTGCAGAGATCCGGGGTCTCGAAGGTGGAGTCAGCTACTCAGTGCGAGTGACTGCACTTGTCGGGGACCGCGAGGGCACACCTGTCTCCATTGTTGTCACTACGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.093 A=NA C2=0.500
Domain overlap (PFAM):

C1:
PF0004116=fn3=PU(46.8=86.0)
A:
NA
C2:
PF0004116=fn3=PD(51.9=82.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGCAGATCCTCAATGCTT
R:
AGCTGACTCCACCTTCGAGAC
Band lengths:
177-258
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