HsaEX0037162 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39479798-39484730:+
Coord C1 exon
chr1:39479798-39480009
Coord A exon
chr1:39480920-39481030
Coord C2 exon
chr1:39484601-39484730
Length
111 bp
Sequences
Splice sites
3' ss Seq
TTTGGATTTCCGTTTCACAGACT
3' ss Score
7.02
5' ss Seq
GAGGTAGAG
5' ss Score
4.86
Exon sequences
Seq C1 exon
CACGAGGTAGAACTAACATTGAACTTAGAGAGAAATTCATCCTACCAGAGGGAGCATCCCAGGGAATGACCCCCTTCCGCTCACGGGGTCGAAGGTCCAAACCATCTTCCCGGGCAGCTTCCCCTACTCGTTCCAGCTCCAGTGCTAGTCAGAGTAACCACAGCTGTACATCCATGCCATCTTCTCCAGCCACCCCAGCCAGTGGAACCAAG
Seq A exon
ACTTCACTTCAGTTCTCTCGCTGTTATGACAAACCCTGGTTGGTAAACAGTAAAGCTGGCACCCCTATCAGGGACAGCCATTCTCCTGACCTCCAGCTGCCCACCCCCGAG
Seq C2 exon
GTTATCCCATCATCAGGTAGCAAGTTGAAACGACCAACACCAACTTTTCATTCTAGTCGGACATCCCTTGCTGGTGATACCAGCAATAGTTCTTCCCCGGCCTCCACAGGTGCCAAAACTAATCGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX5-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.866 A=0.697 C2=1.000
Domain overlap (PFAM):
C1:
PF0218712=GAS2=PD(2.5=2.8)
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCTACCAGAGGGAGCATCC
R:
CCAGCAAGGGATGTCCGACTA
Band lengths:
248-359
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