HsaEX6030193 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39317214-39319747:+
Coord C1 exon
chr1:39317214-39317407
Coord A exon
chr1:39318453-39318615
Coord C2 exon
chr1:39319664-39319747
Length
163 bp
Sequences
Splice sites
3' ss Seq
GTTTCCCTTTGTTCTTCTAGCCA
3' ss Score
8.71
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
Exon sequences
Seq C1 exon
CACTGGCTTAGTGATGTGAAGGACAAGAATTCAGTGTTTTCAGTCCTGGATGAGGAAATTGCCAAGGCCAAGGTAGTGGCAGAGCAGATGAGTCGTCTGACACCAGAGCGAAATCTGGATTTGGAGCGCTATCAGGAAAAAGGCTCCCAGCTGCAGGAGCGTTGGCACCGAGTCATTGCCCAGCTCGAGATTCG
Seq A exon
CCAATCTGAGCTAGAAAGTATCCAGGAAGTTCTGGGAGATTACCGAGCCTGCCATGGAACTCTCATCAAGTGGATTGAGGAAACCACTGCCCAGCAGGAAATGATGAAGCCAGGCCAGGCAGAGGATAGCAGAGTGCTTTCGGAGCAGCTCAGCCAGCAGACG
Seq C2 exon
GCCCTATTTGCAGAAATTGAGAGAAATCAGACAAAACTGGATCAATGTCAAAAATTTTCCCAGCAGTACTCTACTATTGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'79-95,'79-93,80-95
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.031 A=0.281 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
TGGCTTAGTGATGTGAAGGACA
R:
ACTGCTGGGAAAATTTTTGACA
Band lengths:
258-421
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains