HsaEX0037157 @ hg19
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:13664]
Coordinates
chr1:39901230-39903680:+
Coord C1 exon
chr1:39901230-39901437
Coord A exon
chr1:39902154-39902162
Coord C2 exon
chr1:39903449-39903680
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
CAATTAAGGGAATCTATTGCTGAACACAAACCTCATATTGACAAACTACTAAAGATAGGCCCACAACTAAAGGAATTAAACCCTGAGGAAGGGGAAATGGTGGAAGAAAAATACCAGAAAGCAGAAAACATGTATGCCCAAATAAAGGAGGAGGTGCGCCAGCGAGCCCTGGCTCTGGATGAAGCCGTGTCCCAGTCCACACAGGTAT
Seq A exon
ATTACAGAG
Seq C2 exon
TTTCATGATAAAATTGAGCCTATGTTGGAGACACTGGAGAATCTTTCCTCTCGCCTGCGTATGCCACCACTGATCCCTGCTGAAGTAGACAAGATCAGAGAGTGCATCAGTGACAATAAGAGTGCCACCGTGGAGCTAGAAAAACTGCAGCCATCCTTTGAGGCCTTGAAGCGCCGTGGAGAGGAGCTTATTGGACGATCTCAGGGAGCAGACAAGGATCTGGCTGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-MICROEX1-1/2
Average complexity
MIC_M
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.354 A=1.000 C2=0.092
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:
GTGTCCCAGTCCACACAGGTA
R:
ACTTCAGCAGGGATCAGTGGT
Band lengths:
108-117
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)