HsaEX0037149 @ hg19
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:13664]
Coordinates
chr1:39833820-39838268:+
Coord C1 exon
chr1:39833820-39833986
Coord A exon
chr1:39835702-39835858
Coord C2 exon
chr1:39838151-39838268
Length
157 bp
Sequences
Splice sites
3' ss Seq
CAAAACTGCTTCATTGACAGAGA
3' ss Score
3.98
5' ss Seq
AAGGTAGGT
5' ss Score
10.29
Exon sequences
Seq C1 exon
GAGCTCAATTTGGAAATGGAAGACCAACAGGAGAACCTAGATACTCTTGAGCACCTGGTCACTGAACTGAGCTCTTGTGGCTTTGCGCTGGACTTGTGCCAGCATCAGGACAGGGTACAGAATCTAAGAAAAGACTTCACAGAGCTACAGAAGACAGTTAAAGAGAG
Seq A exon
AGAGAAAGATGCATCATCTTGCCAGGAACAGTTGGATGAATTCCGGAAGCTGGTCAGGACCTTCCAGAAATGGTTGAAAGAAACTGAAGGGAGTATTCCACCTACGGAAACTTCTATGAGTGCTAAAGAGTTAGAAAAGCAGATTGAACACCTGAAG
Seq C2 exon
AGTCTACTAGATGACTGGGCAAGTAAGGGAACTCTGGTGGAAGAAATCAATTGCAAAGGTACTTCTTTAGAAAATCTCATCATGGAAATCACAGCACCTGATTCCCAAGGCAAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'75-76,'75-75,76-76
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.199 A=0.420 C2=0.257
Domain overlap (PFAM):
C1:
PF060097=Laminin_II=PU(25.3=42.9)
A:
PF060097=Laminin_II=FE(54.7=100),PF0043516=Spectrin=PU(31.6=81.1)
C2:
PF060097=Laminin_II=PD(17.9=42.5),PF0043516=Spectrin=FE(28.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAAGACCAACAGGAGAACCT
R:
TGGGAATCAGGTGCTGTGATT
Band lengths:
258-415
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)