Special

HsaINT0039653 @ hg19

Intron Retention

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48623765-48624122:-
Coord C1 exon
chr3:48623996-48624122
Coord A exon
chr3:48623912-48623995
Coord C2 exon
chr3:48623765-48623911
Length
84 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGG
5' ss Score
6.74
3' ss Seq
TGACATGTCCTTCCTTCCAGGCA
3' ss Score
10.72
Exon sequences
Seq C1 exon
GTTGGCCTGCTGTCTTACAGTCATCGGCCCTCCCCACTGTTCCCACTGAATGGCTCCCATGACCTTGGCATTATCTTGCAAAGGATCCGTGACATGCCCTACATGGACCCAAGTGGGAACAACCTGG
Seq A exon
GTGAGGACTGCAGCAGGCATGGACTCCTGGGGCTATCCACTGGGAGCTTGGTGCCCCAGGGTTCTGACATGTCCTTCCTTCCAG
Seq C2 exon
GCACAGCCGTGGTCACAGCTCACAGATACATGTTGGCACCAGATGCTCCTGGGCGCCGCCAGCACGTACCAGGGGTGATGGTTCTGCTAGTGGATGAACCCTTGAGAGGTGACATATTCAGCCCCATCCGTGAGGCCCAGGCTTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-COL7A1:NM_000094:25
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.047 A=NA C2=0.080
Domain overlap (PFAM):

C1:
PF0009223=VWA=FE(23.9=100)
A:
NA
C2:
PF0009223=VWA=FE(27.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACTGAATGGCTCCCATGACC
R:
ACTAGCAGAACCATCACCCCT
Band lengths:
175-259
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