HsaEX0037173 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39340502-39347210:+
Coord C1 exon
chr1:39340502-39340717
Coord A exon
chr1:39340804-39340953
Coord C2 exon
chr1:39346977-39347210
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
GTATTAGAAAGGGAGTTAAAGGATCTGACCACCTTGGTCAGTCAGGAGCTGGAGTGTGTGAATCAGATTATCATCAGCCAGCCTCAAGAAGTTCCTGCTCAACTGTTGAAGGCTCTAGAGAAAGATGCCAAGAATCTTCAGAAGTCTCTCAGCTCTGTGAGTGACACTTGGAATTCCAGGCTACTCCACTTCCAGAATGCTGTGGAAATAGAAAAG
Seq A exon
ACTAAAGTGTTAAATCAGCACACACAGCTAGAAGGCCGACTTCAAGATCTGAGAGCCTGGGTTGGCAATAAAAATCTTATTCTGAACAGCAAGGGATCTAACAGTGAAATAGATGTTGACAGCCTGAACCTCTGCCTCCAACAGTATGAG
Seq C2 exon
GATTTGAAACAGCCCATGGCTGAAAGGAAAGCTCAGCTGGATGCTCTTGCTTTTGATATTCAGTTCTTTATCTCAGAACATGCCCAGGACTTGTCCCCTCAGCAGAATCGACAGATGCTGAGGCTTCTGAATGAACTGCAGAGGTCCTTCCAGGACATTTTGGAACAGACTGCCGCTCAGGTGGATGCCTTGCAGGGCCATCTTCAACAAATGGAGCAGGAAGCCCTGGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'101-113,'101-112,102-113
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.051
Domain overlap (PFAM):
C1:
NO
A:
PF0043516=Spectrin=PU(40.2=90.0)
C2:
PF0043516=Spectrin=PD(58.0=83.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGCTACTCCACTTCCAGA
R:
TGTTGAAGATGGCCCTGCAAG
Band lengths:
250-400
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