HsaEX0016612 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134825792-134835204:+
Coord C1 exon
chr9:134825792-134825904
Coord A exon
chr9:134829976-134830044
Coord C2 exon
chr9:134834971-134835204
Length
69 bp
Sequences
Splice sites
3' ss Seq
CCTCCCCGCTGCATGTTTAGGCC
3' ss Score
7.77
5' ss Seq
CTGGTAAGG
5' ss Score
9.68
Exon sequences
Seq C1 exon
GTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGG
Seq A exon
GCCAGAATCACTTCTTGGCCCAAAGAAAACCCGGGCTCCTGGTTCAGTGAATTCAAGCGTGGGAAACTG
Seq C2 exon
CTCTCCTATGTGGACGCCGAGGGCAACCCTGTGGGTGTGGTACAGATGACCTTCCTGCGGCTGCTGAGCGCCTCTGCCCACCAGAACGTCACCTACCACTGCTACCAGTCAGTGGCCTGGCAGGACGCAGCCACGGGCAGCTACGACAAGGCCCTCCGCTTCCTGGGCTCCAACGACGAGGAGATGTCCTATGACAACAACCCCTACATCCGCGCCCTGGTGGACGGCTGTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635_MULTIEX1-1/3=C1-C2
Average complexity
ME(1-2[100=100])
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.021 A=0.130 C2=0.000
Domain overlap (PFAM):
C1:
PF0141013=COLFI=FE(17.5=100)
A:
PF0141013=COLFI=FE(10.4=100)
C2:
PF0141013=COLFI=FE(36.3=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTACTGCAACTTCACAGCCGG
R:
TGGTAGCAGTGGTAGGTGACG
Band lengths:
168-237
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development