HsaEX0037147 @ hg19
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:13664]
Coordinates
chr1:39792890-39803003:+
Coord C1 exon
chr1:39792890-39793025
Coord A exon
chr1:39794273-39794378
Coord C2 exon
chr1:39802854-39803003
Length
106 bp
Sequences
Splice sites
3' ss Seq
TTTTTTGCAAAAACAAACAGTCG
3' ss Score
1.8
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GCTCTCAGAAAAAGAGAAGAAACAAATATCTGAGCAATTGAATGCCCTAAACAAGGCTTACCATGACCTTTGTGATGGTTCTGCAAATCAGCTTCAGCAGCTTCAGAGCCAGTTGGCTCACCAGACAGAACAAAAG
Seq A exon
TCGCATGCTGGACGCTAACACCAAGCTTACACTGTGTGTGTGATACGGCTGAGCTGCTCCATAAGGCTCTATCTTTTATCTGCCCAAGGCGTGCCCTGCAACTCTG
Seq C2 exon
AATGTATTTACCCGGCAACTCTGTTTAGAACATGATGAAAAGCTAGTATCCTATCTGTCTCTGTTACGGAACATTGAAATGAGGACCAAACAGATTCAACCTTTGGAGCTAAACCTGGCAGAACTACAGGATCTGCTGTGTCAGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'60-62,'60-60,61-62
Average complexity
C3
Mappability confidence:
89%=75=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.391 A=1.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCCTAAACAAGGCTTACCA
R:
CTTGGCCTGACACAGCAGATC
Band lengths:
244-350
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)