HsaEX0037169 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39463612-39468732:+
Coord C1 exon
chr1:39463612-39463686
Coord A exon
chr1:39465095-39465112
Coord C2 exon
chr1:39468615-39468732
Length
18 bp
Sequences
Splice sites
3' ss Seq
TTACTCTTTACTGTCTATAGTTC
3' ss Score
6.35
5' ss Seq
CAGGTACAG
5' ss Score
8.68
Exon sequences
Seq C1 exon
GTTACAAGACAAGTGGCTCAGTGCAAATGTGCAAAAAGGTTTCAGGTGGAGCAGATCGGAGAGAATAAATACCGG
Seq A exon
TTCTTCCTCGGCAATCAG
Seq C2 exon
TTTGGGGATTCTCAGCAGTTGCGGCTGGTCCGTATTCTGCGCAGCACCGTGATGGTTCGCGTTGGTGGAGGATGGATGGCCTTGGATGAATTTTTAGTGAAAAATGATCCCTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_CASSETTE11
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=0.004
Domain overlap (PFAM):
C1:
PF0218712=GAS2=FE(30.4=100)
A:
PF0218712=GAS2=FE(6.3=100)
C2:
PF0218712=GAS2=FE(49.4=100)


Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGGAGCAGATCGGAGAGAA
R:
ATCCAAGGCCATCCATCCTCC
Band lengths:
118-136
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