HsaEX0037149 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39368148-39372596:+
Coord C1 exon
chr1:39368148-39368314
Coord A exon
chr1:39370030-39370186
Coord C2 exon
chr1:39372479-39372596
Length
157 bp
Sequences
Splice sites
3' ss Seq
CAAAACTGCTTCATTGACAGAGA
3' ss Score
3.98
5' ss Seq
AAGGTAGGT
5' ss Score
10.29
Exon sequences
Seq C1 exon
GAGCTCAATTTGGAAATGGAAGACCAACAGGAGAACCTAGATACTCTTGAGCACCTGGTCACTGAACTGAGCTCTTGTGGCTTTGCGCTGGACTTGTGCCAGCATCAGGACAGGGTACAGAATCTAAGAAAAGACTTCACAGAGCTACAGAAGACAGTTAAAGAGAG
Seq A exon
AGAGAAAGATGCATCATCTTGCCAGGAACAGTTGGATGAATTCCGGAAGCTGGTCAGGACCTTCCAGAAATGGTTGAAAGAAACTGAAGGGAGTATTCCACCTACGGAAACTTCTATGAGTGCTAAAGAGTTAGAAAAGCAGATTGAACACCTGAAG
Seq C2 exon
AGTCTACTAGATGACTGGGCAAGTAAGGGAACTCTGGTGGAAGAAATCAATTGCAAAGGTACTTCTTTAGAAAATCTCATCATGGAAATCACAGCACCTGATTCCCAAGGCAAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_CASSETTE5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.196 A=0.417 C2=0.221
Domain overlap (PFAM):
C1:
NO
A:
PF0043516=Spectrin=PU(37.4=81.1)
C2:
PF0043516=Spectrin=FE(33.9=100)
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:
TGGAAGACCAACAGGAGAACCT
R:
TGGGAATCAGGTGCTGTGATT
Band lengths:
258-415
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