HsaEX0037165 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39318453-39322715:+
Coord C1 exon
chr1:39318453-39318615
Coord A exon
chr1:39319664-39319747
Coord C2 exon
chr1:39322608-39322715
Length
84 bp
Sequences
Splice sites
3' ss Seq
TGTGATATTTTGCTTCCTAGGCC
3' ss Score
9.19
5' ss Seq
AAGGTAACT
5' ss Score
9.01
Exon sequences
Seq C1 exon
CCAATCTGAGCTAGAAAGTATCCAGGAAGTTCTGGGAGATTACCGAGCCTGCCATGGAACTCTCATCAAGTGGATTGAGGAAACCACTGCCCAGCAGGAAATGATGAAGCCAGGCCAGGCAGAGGATAGCAGAGTGCTTTCGGAGCAGCTCAGCCAGCAGACG
Seq A exon
GCCCTATTTGCAGAAATTGAGAGAAATCAGACAAAACTGGATCAATGTCAAAAATTTTCCCAGCAGTACTCTACTATTGTAAAG
Seq C2 exon
GACTATGAATTGCAACTGATGACATACAAGGCCTTTGTGGAATCGCAGCAGAAATCCCCTGGCAAGCGCCGTCGCATGCTTTCCTCTTCAGATGCCATCACTCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.281 A=0.000 C2=0.277
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO

Main Skipping Isoform:
ENST00000564288fB19288

Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGCCATGGAACTCTCATC
R:
GGGATTTCTGCTGCGATTCCA
Band lengths:
175-259
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development