HsaEX6063842 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134830108-134844843:+
Coord C1 exon
chr9:134830108-134830176
Coord A exon
chr9:134834971-134835204
Coord C2 exon
chr9:134842157-134844843
Length
234 bp
Sequences
Splice sites
3' ss Seq
CAACACCCCTGTCCCCCCAGCTC
3' ss Score
7.3
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
AGTAAAATGGCCCGCTGGCCCAAAGAGCAGCCTTCCACCTGGTATAGTCAGTACAAGCGGGGGTCCCTG
Seq A exon
CTCTCCTATGTGGACGCCGAGGGCAACCCTGTGGGTGTGGTACAGATGACCTTCCTGCGGCTGCTGAGCGCCTCTGCCCACCAGAACGTCACCTACCACTGCTACCAGTCAGTGGCCTGGCAGGACGCAGCCACGGGCAGCTACGACAAGGCCCTCCGCTTCCTGGGCTCCAACGACGAGGAGATGTCCTATGACAACAACCCCTACATCCGCGCCCTGGTGGACGGCTGTGCT
Seq C2 exon
ACCAAGAAAGGCTACCAGAAGACGGTTCTGGAGATCGACACCCCCAAAGTGGAGCAGGTGCCCATCGTGGACATCATGTTCAATGACTTCGGTGAAGCGTCACAGAAATTTGGATTTGAAGTGGGGCCGGCTTGCTTCATGGGCTAGGAGCCGCCGAGCCCGGGCTCCCGAGAGCAACCTCGTGACCTCAGCATGCCATTCGTTCGTGAGTGTCCCGTGCACGTCCTGACCCTGGACAGTGAAGGCTTCTCCCTCCCCTCCCACCTGACTTCATCTACGCCTCGGCACCACGGGGTGTGGGACCCCAGCCCGGAGAGAACAGAGGGAAGGAGCCGCGCCCCCACCTGGAGCTGAATCACATGACCTAGCTGCACCCCAGCGCCTGGGCCCGCCCCACGCTCTGTCCACACCCACGCGCCCCGGGAGCGGGGCCATGCCTCCAGCCCCCCAGCTCGCCCGACCCATCCTGTTCGTGAATAGGTCTCAGGGGTTGGGGGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'125-115,'125-114,131-115=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.157 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0141013=COLFI=FE(13.9=100)
A:
PF0141013=COLFI=FE(36.3=100)
C2:
PF0141013=COLFI=PD(21.2=91.8)
Main Skipping Isoform:
ENST00000618395fB1759
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGTCAGTACAAGCGGGGGTC
R:
AGATGAAGTCAGGTGGGAGGG
Band lengths:
301-535
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains