HsaINT1008168 @ hg38
Intron Retention
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48565636-48566315:-
Coord C1 exon
chr3:48566267-48566315
Coord A exon
chr3:48565669-48566266
Coord C2 exon
chr3:48565636-48565668
Length
598 bp
Sequences
Splice sites
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
3' ss Seq
TCCCTCTCTGCCCCCTCTAGCCT
3' ss Score
8.19
Exon sequences
Seq C1 exon
GAGGATGACATCCGGGGCTTTGTGCGCCAAGAGATGAGTCAGCACTGTG
Seq A exon
GTGAGTGGTGCCCAGCCCGCAGTCTCCCACTCCACCCCAGCACCCTAGGCAAGGGCAGGCAGGCCCCTAGAACTTACAGGGCAAGCAGTCAAGAAGATGGGGGGATGGATGGATACACAGAAGGACACATGTGCTGCAGGACTGACACATGACATGTGTCCCCAGTGGAGGGAGACACACAGGCAGATGAGGATTGCCATGCAGTGCTCTCAGATGTCCAGCTTGGCTGTGTGGGGAGTGGGATGATGGTGGGAGCAGAGCTGGTCCCCTTGGGCCTGACCTGGACCCGGTGGGAGGGGCATCAGAGTGAAGCTGTCTCTTCCCGTCTCTGTCTGCACCACCTGCCTGTTTCTGTGTCTGGCCTGCTTCTGTCTCTTGCCTTTTGTTGGCCTGTTCCCAACTTCCCTCTCCTCTGCCTTCTTCTCTTTTTCCATCTCTCTATCTACCTCCCACCCTCTCTCTTCCTCTCTCTCCTGTTACCCTCTCCTGCTATCTCTTTGTGTATCTCTACCCCTCTGCCTGTGTGTCTCTGTCTGTCTCTCCATCTTCCCATCCTTCTCTCTGTCATTGTCTCTCTATCCCTCTCTGCCCCCTCTAG
Seq C2 exon
CCTGCCAGGGCCAGTTCATCGCATCTGGATCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270:ENST00000328333:113
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.706 A=NA C2=0.583
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(0.1=0.0)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
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