HsaEX0037153 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39424028-39428287:+
Coord C1 exon
chr1:39424028-39424194
Coord A exon
chr1:39427455-39427614
Coord C2 exon
chr1:39427961-39428287
Length
160 bp
Sequences
Splice sites
3' ss Seq
TGTTCTATATATTTGTGTAGGCA
3' ss Score
6.65
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
Exon sequences
Seq C1 exon
TTGCTCCAGCGGCTCCTAGATGATCGAAAGGCCACAGTAGACATGCTTCAAGCAGAAGGAGGCAGAATAGCCCAGTCAGCAGAGCTGGCTGATAGAGAGAAAATCACTGGACAGCTGGAGAGTCTTGAAAGTAGATGGACTGAACTACTCAGTAAGGCAGCAGCCAG
Seq A exon
GCAAAAACAGCTGGAAGACATCCTGGTTCTGGCCAAACAGTTCCATGAGACAGCTGAGCCTATTTCTGACTTCTTATCTGTCACAGAGAAAAAGCTTGCTAACTCAGAACCTGTTGGCACTCAGACTGCCAAAATACAGCAGCAGATCATTCGGCACAAG
Seq C2 exon
GCTCTGGAAGAAGACATAGAAAACCATGCAACAGATGTGCACCAGGCAGTCAAAATTGGGCAGTCCCTCTCCTCCCTGACATCTCCTGCAGAACAGGGTGTGCTGTCAGAAAAGATAGACTCATTGCAGGCCCGATACAGTGAAATTCAAGACCGCTGTTGTCGGAAGGCAGCCCTACTTGACCAAGCTCTGTCTAATGCTAGGCTGTTTGGGGAGGATGAGGTGGAGGTGCTCAACTGGCTGGCTGAGGTTGAGGACAAGCTCAGTTCAGTGTTCGTAAAGGATTTCAAACAGGATGTCCTGCACAGGCAGCATGCTGACCACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX1-1/2=C1-2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.073 A=0.088 C2=0.011
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(51.4=100)
A:
PF0043516=Spectrin=PD(5.6=11.1),PF0043516=Spectrin=PU(41.1=81.5)
C2:
PF0043516=Spectrin=PD(57.0=56.0),PF0043516=Spectrin=PU(41.1=40.4)
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:
TCCAGCGGCTCCTAGATGATC
R:
GATGTCAGGGAGGAGAGGGAC
Band lengths:
246-406
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