Special

HsaINT0039694 @ hg19

Intron Retention

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48615886-48616387:-
Coord C1 exon
chr3:48616352-48616387
Coord A exon
chr3:48615949-48616351
Coord C2 exon
chr3:48615886-48615948
Length
403 bp
Sequences
Splice sites
5' ss Seq
GACGTAAGT
5' ss Score
10.93
3' ss Seq
TTAACAAAGACTTTTTCCAGGGG
3' ss Score
1.46
Exon sequences
Seq C1 exon
GGTGCTGCAGGCAAAGCTGGGGACCCAGGGAGAGAC
Seq A exon
GTAAGTGAGGGGAGATGCTGGGACAGAGGGGGCTCGGGGCTGCGTAAGCTCCAACCAGATCATCATAGTCACAGCATCCGAGAGAGTTGGTGGGGGGTCGGTTCAGCCTTGCCTTTGGGAGGGTCTCAGTCCCTGGCACACAGGTTTTAGTAGAATCCCCCTTTCTGACCTTCTTTGCCTTGGGGGTCTTCATAGGCCCTCCAAGTCCTGGGGGTTCTTCCCTTGGGAGTCTCAGCAGGGGCCCCCATCCATGGGGTCTGTGCCTGAGGGATCTCAATGGGACCTCTCAGTCCTGGGGGTCTCTACCCTGGAGGGAGATCTTTTTGGGGTCCTCTTAGTCCATGGGGTGTGCCCCAAGGGATATCTCAGAGGCCCTATAAATCTTAACAAAGACTTTTTCCAG
Seq C2 exon
GGGCTTCCAGGCCTCCGTGGAGAACAGGGCCTCCCTGGCCCCTCTGGTCCCCCTGGATTACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:62
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=FE(13.8=100),PF0139113=Collagen=FE(13.4=100)
A:
NA
C2:
PF0139113=Collagen=FE(22.7=100),PF0139113=Collagen=PU(19.8=85.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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