HsaEX0037173 @ hg19
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:13664]
Coordinates
chr1:39792890-39815299:+
Coord C1 exon
chr1:39792890-39793025
Coord A exon
chr1:39806476-39806625
Coord C2 exon
chr1:39815150-39815299
Length
150 bp
Sequences
Splice sites
3' ss Seq
ATTTTCCATTTATTTCTTAGACT
3' ss Score
8.32
5' ss Seq
GAGGTAAAC
5' ss Score
7.2
Exon sequences
Seq C1 exon
GCTCTCAGAAAAAGAGAAGAAACAAATATCTGAGCAATTGAATGCCCTAAACAAGGCTTACCATGACCTTTGTGATGGTTCTGCAAATCAGCTTCAGCAGCTTCAGAGCCAGTTGGCTCACCAGACAGAACAAAAG
Seq A exon
ACTAAAGTGTTAAATCAGCACACACAGCTAGAAGGCCGACTTCAAGATCTGAGAGCCTGGGTTGGCAATAAAAATCTTATTCTGAACAGCAAGGGATCTAACAGTGAAATAGATGTTGACAGCCTGAACCTCTGCCTCCAACAGTATGAG
Seq C2 exon
ACCCTGCAGAAACAACAAAATACCTGTCACCAGCAACTGGAGGATCTTTGCAGTTGGGTAGGACAGGCAGAAAGAGCACTGGCAGGCCACCAAGGCAGAACCACCCAGCAGGATCTCTCTGCTTTGCAGAAGAACCAAAGTGACTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX1-4/5=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.391 A=0.000 C2=0.581
Domain overlap (PFAM):
C1:
NO
A:
PF0043516=Spectrin=PU(40.2=90.0)
C2:
PF0043516=Spectrin=PU(40.7=92.0)
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:
TGCCCTAAACAAGGCTTACCA
R:
TCAAGTCACTTTGGTTCTTCTGCA
Band lengths:
242-392
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)