HsaEX0037166 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39372479-39379444:+
Coord C1 exon
chr1:39372479-39372596
Coord A exon
chr1:39378461-39378523
Coord C2 exon
chr1:39379203-39379444
Length
63 bp
Sequences
Splice sites
3' ss Seq
CTCCCTGTCCTTCTGCTCAGGTT
3' ss Score
10.46
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
AGTCTACTAGATGACTGGGCAAGTAAGGGAACTCTGGTGGAAGAAATCAATTGCAAAGGTACTTCTTTAGAAAATCTCATCATGGAAATCACAGCACCTGATTCCCAAGGCAAGACAG
Seq A exon
GTTCCATACTGCCCTCTGTAGGAAGCTCTGTAGGCAGTGTAAACGGATACCACACCTGCAAAG
Seq C2 exon
ATCTGACGGAGATCCAGTGTGACATGTCAGATGTAAACTTGAAGTATGAGAAACTAGGGGGAGTACTTCATGAACGCCAGGAAAGCCTTCAGGCTATCCTCAACAGAATGGAGGAGGTTCACAAGGAGGCAAACTCTGTGCTGCAGTGGCTGGAATCAAAAGAGGAAGTCCTGAAATCCATGGATGCCATGTCATCTCCAACCAAGACAGAAACAGTGAAAGCCCAAGCTGAATCTAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_CASSETTE6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.221 A=0.273 C2=0.276
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(33.9=100)
A:
NO
C2:
PF0043516=Spectrin=PD(27.8=39.0),PF0043516=Spectrin=PU(41.8=56.1)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGATGACTGGGCAAGTAAGGGA
R:
TGTCACACTGGATCTCCGTCA
Band lengths:
134-197
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