HsaEX6030190 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39322910-39324734:+
Coord C1 exon
chr1:39322910-39323008
Coord A exon
chr1:39324193-39324345
Coord C2 exon
chr1:39324646-39324734
Length
153 bp
Sequences
Splice sites
3' ss Seq
TTTTCTATTTCCTATTCTAGAAA
3' ss Score
10.35
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
TTCATGGACTTAAGGACTCGCTACACGGCATTGGTGACTTTAACAACTCAGCACGTGAAATACATCAGTGATGCACTCCGGCGTCTGGAGGAGGAGGAG
Seq A exon
AAAGTGGTAGAAGAGGAGAAACAAGAACATGTGGAGAAGGTTAAAGAACTTTTGGGCTGGGTGTCTACCCTAGCGAGGAATACACAAGGAAAAGCTACCTCATCCGAGACCAAAGAATCAACAGACATTGAAAAAGCTATTTTGGAACAGCAG
Seq C2 exon
GTTCTGTCAGAAGAGCTGACAACAAAGAAAGAACAAGTCTCTGAAGCTATTAAAACATCACAGATCTTCTTGGCCAAGCATGGTCATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'88-100,'88-99,90-100=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.030 A=0.415 C2=0.010
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
TCATGGACTTAAGGACTCGCT
R:
CCATGCTTGGCCAAGAAGATCT
Band lengths:
181-334
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains