HsaEX0037155 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39429242-39430908:+
Coord C1 exon
chr1:39429242-39429326
Coord A exon
chr1:39429827-39430068
Coord C2 exon
chr1:39430702-39430908
Length
242 bp
Sequences
Splice sites
3' ss Seq
TTGTGTGCTATCTTCCATAGGTG
3' ss Score
11.39
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GCTTTAAATGAAGAAATTGTTAATAGAAAGAAGAATGTAGATCAAGCTATTAAAAATGGTCAGGCTCTTCTAAAACAAACCACAG
Seq A exon
GTGAGGAGGTGTTACTTATCCAGGAAAAACTAGATGGTATAAAGACTCGTTACGCAGACATCACAGTTACTAGCTCCAAGGCCCTCAGAACTTTAGAGCAAGCCCGGCAGCTGGCCACCAAGTTCCAGTCTACTTATGAGGAACTGACCGGGTGGCTGAGGGAGGTGGAGGAGGAGCTGGCAACCAGTGGAGGACAGTCTCCCACAGGGGAACAGATACCCCAGTTTCAGCAGAGACAGAAG
Seq C2 exon
GAATTAAAGAAGGAGGTCATGGAGCACAGGCTGGTGTTGGACACAGTGAATGAGGTGAGCCGTGCTCTCTTAGAGCTGGTGCCCTGGAGAGCCAGAGAAGGGCTGGATAAACTTGTGTCCGATGCTAACGAGCAGTACAAACTAGTCAGTGACACTATTGGACAAAGGGTGGATGAAATTGATGCTGCTATTCAGAGATCACAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_CASSETTE7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=0.271 C2=0.001
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(26.2=100)
A:
PF0043516=Spectrin=PD(30.8=40.7),PF0043516=Spectrin=PU(41.1=54.3)
C2:
PF0043516=Spectrin=PD(57.0=88.4),PF0043516=Spectrin=PU(3.7=5.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATCAAGCTATTAAAAATGGTCAGGC
R:
TGTTGTGATCTCTGAATAGCAGCA
Band lengths:
252-494
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