HsaEX6030175 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39427961-39430068:+
Coord C1 exon
chr1:39427961-39428287
Coord A exon
chr1:39429242-39429326
Coord C2 exon
chr1:39429827-39430068
Length
85 bp
Sequences
Splice sites
3' ss Seq
ATGGTATTCTTTCCTTTCAGGCT
3' ss Score
9.51
5' ss Seq
CAGGTACTT
5' ss Score
8.17
Exon sequences
Seq C1 exon
GCTCTGGAAGAAGACATAGAAAACCATGCAACAGATGTGCACCAGGCAGTCAAAATTGGGCAGTCCCTCTCCTCCCTGACATCTCCTGCAGAACAGGGTGTGCTGTCAGAAAAGATAGACTCATTGCAGGCCCGATACAGTGAAATTCAAGACCGCTGTTGTCGGAAGGCAGCCCTACTTGACCAAGCTCTGTCTAATGCTAGGCTGTTTGGGGAGGATGAGGTGGAGGTGCTCAACTGGCTGGCTGAGGTTGAGGACAAGCTCAGTTCAGTGTTCGTAAAGGATTTCAAACAGGATGTCCTGCACAGGCAGCATGCTGACCACCTG
Seq A exon
GCTTTAAATGAAGAAATTGTTAATAGAAAGAAGAATGTAGATCAAGCTATTAAAAATGGTCAGGCTCTTCTAAAACAAACCACAG
Seq C2 exon
GTGAGGAGGTGTTACTTATCCAGGAAAAACTAGATGGTATAAAGACTCGTTACGCAGACATCACAGTTACTAGCTCCAAGGCCCTCAGAACTTTAGAGCAAGCCCGGCAGCTGGCCACCAAGTTCCAGTCTACTTATGAGGAACTGACCGGGTGGCTGAGGGAGGTGGAGGAGGAGCTGGCAACCAGTGGAGGACAGTCTCCCACAGGGGAACAGATACCCCAGTTTCAGCAGAGACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-'148-179,'148-178,149-179
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.011 A=0.007 C2=0.271
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(57.0=56.0),PF0043516=Spectrin=PU(41.1=40.4)
A:
PF0043516=Spectrin=FE(26.2=100)
C2:
PF0043516=Spectrin=PD(30.8=40.7),PF0043516=Spectrin=PU(41.1=54.3)
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:
CTGGCTGAGGTTGAGGACAAG
R:
TTCTGAGGGCCTTGGAGCTAG
Band lengths:
177-262
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains