HsaEX0037147 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39327218-39349627:+
Coord C1 exon
chr1:39327218-39327353
Coord A exon
chr1:39328601-39328706
Coord C2 exon
chr1:39349478-39349627
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
ACCCTGCAGAAACAACAAAATACCTGTCACCAGCAACTGGAGGATCTTTGCAGTTGGGTAGGACAGGCAGAAAGAGCACTGGCAGGCCACCAAGGCAGAACCACCCAGCAGGATCTCTCTGCTTTGCAGAAGAACCAAAGTGACTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX2-1/6=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.207 A=1.000 C2=0.502
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0043516=Spectrin=PU(40.7=92.0)
Main Inclusion Isoform:
ENST00000564288fB4014
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCCTAAACAAGGCTTACCA
R:
TCAAGTCACTTTGGTTCTTCTGCA
Band lengths:
242-348
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