Special

HsaINT0039633 @ hg19

Intron Retention

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48603700-48603996:-
Coord C1 exon
chr3:48603943-48603996
Coord A exon
chr3:48603749-48603942
Coord C2 exon
chr3:48603700-48603748
Length
194 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
3' ss Seq
CTGTGGTCTTCTGCTCCCAGGAG
3' ss Score
9.05
Exon sequences
Seq C1 exon
GGGCGGCCAGGGCCTGCCGGTCCTCGAGGCGAGAAGGGAGAAGCTGCACTGACG
Seq A exon
GTGAGTGTGGGCCTGGATGGGCCTGGGAGGGCCTGGGTGGGCCTGGGTGGGCTGGGGCCCTACCTCCCTCACCCAGCACCCTGACCCCTGGGCCCTGGCTCCATGCAGTCTCACCATAGTCCCTGTATTATGTGCCCTATGTCCTTCCTGTGGGCCATGGGTTCTTTATGGTCCCTGTGGTCTTCTGCTCCCAG
Seq C2 exon
GAGGATGACATCCGGGGCTTTGTGCGCCAAGAGATGAGTCAGCACTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:112
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=0.706
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(25.8=100)
A:
NA
C2:
PF0139113=Collagen=PD(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
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