HsaEX6030176 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39422730-39427614:+
Coord C1 exon
chr1:39422730-39422900
Coord A exon
chr1:39424028-39424194
Coord C2 exon
chr1:39427455-39427614
Length
167 bp
Sequences
Splice sites
3' ss Seq
TTTCATTCTCTTTATAATAGTTG
3' ss Score
6.5
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GTCGCACAAAGAATTGCACAGCTACAGGAAGCTTTGTTGCATTGTGGGAAGTTTCAAGATGCCTTGGAGCCATTGCTCAGCTGGTTGGCAGATACCGAGGAGCTCATAGCCAATCAGAAACCTCCATCTGCTGAGTATAAAGTGGTGAAAGCACAGATCCAAGAACAGAAG
Seq A exon
TTGCTCCAGCGGCTCCTAGATGATCGAAAGGCCACAGTAGACATGCTTCAAGCAGAAGGAGGCAGAATAGCCCAGTCAGCAGAGCTGGCTGATAGAGAGAAAATCACTGGACAGCTGGAGAGTCTTGAAAGTAGATGGACTGAACTACTCAGTAAGGCAGCAGCCAG
Seq C2 exon
GCAAAAACAGCTGGAAGACATCCTGGTTCTGGCCAAACAGTTCCATGAGACAGCTGAGCCTATTTCTGACTTCTTATCTGTCACAGAGAAAAAGCTTGCTAACTCAGAACCTGTTGGCACTCAGACTGCCAAAATACAGCAGCAGATCATTCGGCACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'141-175,'141-172,143-175=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.019 A=0.073 C2=0.088
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(10.2=17.2),PF0043516=Spectrin=PU(41.1=75.9)
A:
PF0043516=Spectrin=FE(51.4=100)
C2:
PF0043516=Spectrin=PD(5.6=11.1),PF0043516=Spectrin=PU(41.1=81.5)
Main Skipping Isoform:
ENST00000564288fB19285
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:
CTCAGCTGGTTGGCAGATACC
R:
GCCGAATGATCTGCTGCTGTA
Band lengths:
251-418
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains