HsaEX0037139 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39081316-39084438:+
Coord C1 exon
chr1:39081316-39081543
Coord A exon
chr1:39083363-39083417
Coord C2 exon
chr1:39084167-39084438
Length
55 bp
Sequences
Splice sites
3' ss Seq
ATATTACCCCCATTTTGCAGATG
3' ss Score
9.11
5' ss Seq
ATTGTAAGT
5' ss Score
8.54
Exon sequences
Seq C1 exon
CGCTGGGAGTGGGGGAGCGGGTTGGGCGGCTGCGCCGGCTCTGCTTCAGCCGCTGCCGCTAGGGCGCGGGGGGCGGGGGGCTCGGCGCCGCGAGCTCGGCCATTGTGGGAGCCGCTCCCCTCGGCTCCGCCACGCTCCCCTCGACTGCGCTCCAGCCTGGGGCGCGCCCGGCCGCCGCCGCCTTCGCTGCCGCCACGGGCCCGTCTTCTTCCTCCTTCGGCTCCCAGG
Seq A exon
ATGAAGAAACTGAGTCTCAGAGAGGTGAAGTGACTTGCCCAAGATCACAGCAATT
Seq C2 exon
ATCACTTCTCCCTGGGCTCCCAGGCCCTCCTGCAGCAGCCCCCGCCTGGGCCATGTCTTCCTCAGATGAAGAGACGCTCAGTGAGCGGTCATGTCGGAGTGAGCGGTCTTGTCGGAGTGAGCGATCTTACAGGAGCGAGCGGTCGGGGAGCCTGTCTCCCTGTCCCCCAGGGGACACCTTGCCCTGGAACCTGCCACTGCATGAGCAGAAAAAGCGGAAAAGCCAGGATTCGGTGCTGGACCCTGCAGAGCGTGCTGTGGTCAGAGTCGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.726
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTCTTCCTCCTTCGGCTCC
R:
AAGACCGCTCACTCCGACAT
Band lengths:
135-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development