HsaEX0037157 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39435558-39438008:+
Coord C1 exon
chr1:39435558-39435761
Coord A exon
chr1:39436482-39436490
Coord C2 exon
chr1:39437777-39438008
Length
9 bp
Sequences
Splice sites
3' ss Seq
GACCGCGCCCACCATTACAGATT
3' ss Score
6.57
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
CAATTAAGGGAATCTATTGCTGAACACAAACCTCATATTGACAAACTACTAAAGATAGGCCCACAACTAAAGGAATTAAACCCTGAGGAAGGGGAAATGGTGGAAGAAAAATACCAGAAAGCAGAAAACATGTATGCCCAAATAAAGGAGGAGGTGCGCCAGCGAGCCCTGGCTCTGGATGAAGCCGTGTCCCAGTCCACACAG
Seq A exon
ATTACAGAG
Seq C2 exon
TTTCATGATAAAATTGAGCCTATGTTGGAGACACTGGAGAATCTTTCCTCTCGCCTGCGTATGCCACCACTGATCCCTGCTGAAGTAGACAAGATCAGAGAGTGCATCAGTGACAATAAGAGTGCCACCGTGGAGCTAGAAAAACTGCAGCCATCCTTTGAGGCCTTGAAGCGCCGTGGAGAGGAGCTTATTGGACGATCTCAGGGAGCAGACAAGGATCTGGCTGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'161-196,'161-195,163-196
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.336 A=1.000 C2=0.116
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(56.6=88.2),PF060097=Laminin_II=PU(52.4=79.4),PF0043516=Spectrin=PU(0.9=1.5)
A:
PF060097=Laminin_II=FE(1.9=100),PF0043516=Spectrin=FE(1.8=100)
C2:
PF060097=Laminin_II=PD(42.7=56.4),PF0043516=Spectrin=FE(69.4=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCTGGATGAAGCCGTGTC
R:
CATACGCAGGCGAGAGGAAAG
Band lengths:
96-105
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