HsaEX0037154 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39427455-39429326:+
Coord C1 exon
chr1:39427455-39427614
Coord A exon
chr1:39427961-39428287
Coord C2 exon
chr1:39429242-39429326
Length
327 bp
Sequences
Splice sites
3' ss Seq
TTTTCCATCTGGATTTCCAGGCT
3' ss Score
7.09
5' ss Seq
CTGGTATTC
5' ss Score
1.5
Exon sequences
Seq C1 exon
GCAAAAACAGCTGGAAGACATCCTGGTTCTGGCCAAACAGTTCCATGAGACAGCTGAGCCTATTTCTGACTTCTTATCTGTCACAGAGAAAAAGCTTGCTAACTCAGAACCTGTTGGCACTCAGACTGCCAAAATACAGCAGCAGATCATTCGGCACAAG
Seq A exon
GCTCTGGAAGAAGACATAGAAAACCATGCAACAGATGTGCACCAGGCAGTCAAAATTGGGCAGTCCCTCTCCTCCCTGACATCTCCTGCAGAACAGGGTGTGCTGTCAGAAAAGATAGACTCATTGCAGGCCCGATACAGTGAAATTCAAGACCGCTGTTGTCGGAAGGCAGCCCTACTTGACCAAGCTCTGTCTAATGCTAGGCTGTTTGGGGAGGATGAGGTGGAGGTGCTCAACTGGCTGGCTGAGGTTGAGGACAAGCTCAGTTCAGTGTTCGTAAAGGATTTCAAACAGGATGTCCTGCACAGGCAGCATGCTGACCACCTG
Seq C2 exon
GCTTTAAATGAAGAAATTGTTAATAGAAAGAAGAATGTAGATCAAGCTATTAAAAATGGTCAGGCTCTTCTAAAACAAACCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX1-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.088 A=0.011 C2=0.007
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(5.6=11.1),PF0043516=Spectrin=PU(41.1=81.5)
A:
PF0043516=Spectrin=PD(57.0=56.0),PF0043516=Spectrin=PU(41.1=40.4)
C2:
PF0043516=Spectrin=FE(26.2=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAAAAACAGCTGGAAGACATC
R:
GGTTTGTTTTAGAAGAGCCTGACC
Band lengths:
241-568
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