HsaEX6030184 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39357375-39359264:+
Coord C1 exon
chr1:39357375-39357893
Coord A exon
chr1:39358697-39358873
Coord C2 exon
chr1:39359141-39359264
Length
177 bp
Sequences
Splice sites
3' ss Seq
CCTTTCTTTCTCTGGCACAGTGT
3' ss Score
8.66
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
TGTCCCAGCAGCAAAATTTCATTCTGGCCACCCAGTCAGCTCAGGCCTTCTTGGATCAGCATGGCCACAATCTCACACCTGAGGAGCAACAGATGCTGCAACAGAAGCTGGGAGAGCTAAAGGAACAATACTCTACTTCCCTGGCCCAATCAGAGGCAGAACTGAAGCAGGTGCAGACACTTCAGGATGAGTTGCAGAAATTTCTGCAGGATCATAAAGAGTTTGAAAGCTGGTTGGAACGATCCGAGAAAGAGCTGGAGAACATGCATAAGGGAGGCAGCAGCCCCGAGACCCTTCCCTCCCTGCTAAAGCGGCAAGGAAGCTTCTCAGAGGATGTCATTTCCCACAAAGGAGACTTGAGATTTGTGACTATCTCAGGACAGAAAGTCTTGGACATGGAAAACAGTTTTAAGGAAGGCAAAGAACCATCAGAAATTGGAAACTTAGTAAAGGACAAGTTGAAGGATGCAACAGAAAGATACACTGCTCTCCACTCAAAG
Seq A exon
TGTACACGATTAGGATCTCACCTGAATATGCTGTTAGGCCAGTATCATCAATTCCAAAACAGTGCTGACAGCCTGCAGGCCTGGATGCAGGCTTGTGAGGCCAACGTGGAGAAGCTCCTCTCAGATACTGTTGCCTCTGACCCTGGAGTTCTCCAGGAGCAGCTTGCAACAACAAAG
Seq C2 exon
CAGTTGCAGGAGGAATTGGCTGAGCACCAAGTACCTGTGGAAAAACTCCAAAAAGTAGCTCGTGACATAATGGAAATTGAAGGGGAGCCAGCCCCAGACCACAGGCATGTTCAAGAAACTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'113-126,'113-124,114-126
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.433 A=0.152 C2=0.641
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PU(92.0=60.1)
A:
PF0043516=Spectrin=PD(6.2=11.9),PF0043516=Spectrin=PU(41.4=78.0)
C2:
PF0043516=Spectrin=FE(36.9=100)
Main Skipping Isoform:
NA
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:
GACCCTTCCCTCCCTGCTAAA
R:
TCCACAGGTACTTGGTGCTCA
Band lengths:
252-429
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains