HsaEX0037161 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39468615-39480009:+
Coord C1 exon
chr1:39468615-39468732
Coord A exon
chr1:39469547-39469615
Coord C2 exon
chr1:39479798-39480009
Length
69 bp
Sequences
Splice sites
3' ss Seq
TTACGTATTTTTTATTCTAGTTC
3' ss Score
8.04
5' ss Seq
TAGGTTGGC
5' ss Score
2.04
Exon sequences
Seq C1 exon
TTTGGGGATTCTCAGCAGTTGCGGCTGGTCCGTATTCTGCGCAGCACCGTGATGGTTCGCGTTGGTGGAGGATGGATGGCCTTGGATGAATTTTTAGTGAAAAATGATCCCTGCCGAG
Seq A exon
TTCACCATCCTGGGAGTAAAATAAAGCGCTCTGATTCCAGCTCTTCGATTTCCAGTCAGTCTCCCATAG
Seq C2 exon
CACGAGGTAGAACTAACATTGAACTTAGAGAGAAATTCATCCTACCAGAGGGAGCATCCCAGGGAATGACCCCCTTCCGCTCACGGGGTCGAAGGTCCAAACCATCTTCCCGGGCAGCTTCCCCTACTCGTTCCAGCTCCAGTGCTAGTCAGAGTAACCACAGCTGTACATCCATGCCATCTTCTCCAGCCACCCCAGCCAGTGGAACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_CASSETTE12
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.004 A=0.931 C2=0.866
Domain overlap (PFAM):
C1:
PF0218712=GAS2=FE(49.4=100)
A:
PF0218712=GAS2=PD(2.7=8.3)
C2:
PF0218712=GAS2=PD(2.5=2.8)
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGATGGATGGCCTTGGATGA
R:
CTGCCCGGGAAGATGGTTTG
Band lengths:
167-236
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