HsaEX0037152 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39387187-39422900:+
Coord C1 exon
chr1:39387187-39388658
Coord A exon
chr1:39422374-39422535
Coord C2 exon
chr1:39422730-39422900
Length
162 bp
Sequences
Splice sites
3' ss Seq
TTTGGCTTGTAATTATCTAGATG
3' ss Score
6.01
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GAGTGAACAGTGGTTGTGTGATGATGGAAAACAAGCTGGAGGGGATTGGCCAGTTTCACTGCCGGGTCCGAGAGATGTTCTCTCAATTGGCAGACCTGGATGATGAGCTAGATGGCATGGGTGCTATTGGCAGAGACACTGATAGCCTCCAGTCCCAAATCGAGGATGTCCGGCTATTCCTTAACAAAATTCACGTCCTCAAATTAGACATAGAGGCCTCTGAAGCAGAGTGTCGACATATGCTAGAAGAAGAGGGGACTCTGGATTTGTTAGGTCTCAAAAGGGAGCTAGAAGCCCTGAACAAACAGTGTGGCAAACTGACAGAGAGGGGGAAAGCTCGTCAGGAACAGCTGGAACTGACACTAGGCCGTGTAGAGGACTTCTACAGGAAATTGAAAGGACTCAATGACGCGACCACAGCAGCAGAGGAGGCAGAGGCCCTCCAGTGGGTAGTGGGGACCGAAGTGGAAATCATCAACCAACAATTAGCAGATTTTAAA
Seq A exon
ATGTTTCAGAAAGAACAAGTGGATCCTCTTCAGATGAAATTGCAGCAGGTGAATGGACTTGGCCAGGGATTAATTCAGAGTGCAGGAAAAGACTGTGATGTACAGGGTTTAGAACATGACATGGAAGAGATCAATGCTCGATGGAATACATTGAATAAAAAG
Seq C2 exon
GTCGCACAAAGAATTGCACAGCTACAGGAAGCTTTGTTGCATTGTGGGAAGTTTCAAGATGCCTTGGAGCCATTGCTCAGCTGGTTGGCAGATACCGAGGAGCTCATAGCCAATCAGAAACCTCCATCTGCTGAGTATAAAGTGGTGAAAGCACAGATCCAAGAACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX8-4/4=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.096 A=0.025 C2=0.019
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=WD(100=22.0),PF0043516=Spectrin=WD(100=21.4),PF0043516=Spectrin=PU(39.8=8.8)
A:
PF0043516=Spectrin=FE(49.1=100)
C2:
PF0043516=Spectrin=PD(10.2=17.2),PF0043516=Spectrin=PU(41.1=75.9)
Main Skipping Isoform:
ENST00000564288fB19293
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACTAGGCCGTGTAGAGGAC
R:
ATTGGCTATGAGCTCCTCGGT
Band lengths:
255-417
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