Special

HsaINT0039719 @ hg19

Intron Retention

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48610295-48610489:-
Coord C1 exon
chr3:48610454-48610489
Coord A exon
chr3:48610376-48610453
Coord C2 exon
chr3:48610295-48610375
Length
78 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
3' ss Seq
ACAGAGCTCTTCCCTCTCAGGGG
3' ss Score
5.65
Exon sequences
Seq C1 exon
GGTCCACAGGGGTCTCCAGGTTTGCCTGGACAAGTG
Seq A exon
GTGAGTTCTGGGGGTCAAGGGTTGGGCTCCAGGGGTCAAGGGTCGACAGGCAGCCCTGACAGAGCTCTTCCCTCTCAG
Seq C2 exon
GGGGAGACAGGGAAGCCGGGAGCCCCAGGTCGAGATGGTGCCAGTGGAAAAGATGGAGACAGAGGGAGCCCTGGTGTGCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:85
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(14.3=100)
A:
NA
C2:
PF0139113=Collagen=PD(32.9=88.9),PF0139113=Collagen=PU(30.8=74.1)


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:
CCACAGGGGTCTCCAGGTTT
R:
CACACCAGGGCTCCCTCTG
Band lengths:
111-189
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