HsaEX1022583 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39387187-39422535:+
Coord C1 exon
chr1:39387187-39388658
Coord A exon
chr1:39414323-39414477
Coord C2 exon
chr1:39422374-39422535
Length
155 bp
Sequences
Splice sites
3' ss Seq
TGACTCAGTGCCTATTTCAGAAG
3' ss Score
4.12
5' ss Seq
GAGGTAATT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GAGTGAACAGTGGTTGTGTGATGATGGAAAACAAGCTGGAGGGGATTGGCCAGTTTCACTGCCGGGTCCGAGAGATGTTCTCTCAATTGGCAGACCTGGATGATGAGCTAGATGGCATGGGTGCTATTGGCAGAGACACTGATAGCCTCCAGTCCCAAATCGAGGATGTCCGGCTATTCCTTAACAAAATTCACGTCCTCAAATTAGACATAGAGGCCTCTGAAGCAGAGTGTCGACATATGCTAGAAGAAGAGGGGACTCTGGATTTGTTAGGTCTCAAAAGGGAGCTAGAAGCCCTGAACAAACAGTGTGGCAAACTGACAGAGAGGGGGAAAGCTCGTCAGGAACAGCTGGAACTGACACTAGGCCGTGTAGAGGACTTCTACAGGAAATTGAAAGGACTCAATGACGCGACCACAGCAGCAGAGGAGGCAGAGGCCCTCCAGTGGGTAGTGGGGACCGAAGTGGAAATCATCAACCAACAATTAGCAGATTTTAAA
Seq A exon
AAGAAGGAACACCTGTTCTAGAGGAGGCTTCCTCCACTGGAATGTGGATCAAGGAGGACCTTGATTCCCTAGTATTTGGCATAAAAGAGGTGACCAGCACAGTGCTACATGGGAAAGTGCCTCTGGCTGCAACCGCTGGATTAAATTCAGATGAG
Seq C2 exon
ATGTTTCAGAAAGAACAAGTGGATCCTCTTCAGATGAAATTGCAGCAGGTGAATGGACTTGGCCAGGGATTAATTCAGAGTGCAGGAAAAGACTGTGATGTACAGGGTTTAGAACATGACATGGAAGAGATCAATGCTCGATGGAATACATTGAATAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX8-3/4=C1-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.096 A=0.293 C2=0.025
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=WD(100=22.0),PF0043516=Spectrin=WD(100=21.4),PF0043516=Spectrin=PU(39.8=8.8)
A:
NO
C2:
PF0043516=Spectrin=FE(49.1=100)
Main Inclusion Isoform:
ENST00000564288fB19293
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGCAAACTGACAGAGAGGG
R:
CAAGTCCATTCACCTGCTGCA
Band lengths:
252-407
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains