Special

HsaEX0037174 @ hg38

Exon Skipping

Gene
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39327218-39349627:+
Coord C1 exon
chr1:39327218-39327353
Coord A exon
chr1:39346977-39347210
Coord C2 exon
chr1:39349478-39349627
Length
234 bp
Sequences
Splice sites
3' ss Seq
CCTTTTTCCATTTACCTTAGGAT
3' ss Score
10.51
5' ss Seq
AAGGTCAGA
5' ss Score
6.8
Exon sequences
Seq C1 exon
GCTCTCAGAAAAAGAGAAGAAACAAATATCTGAGCAATTGAATGCCCTAAACAAGGCTTACCATGACCTTTGTGATGGTTCTGCAAATCAGCTTCAGCAGCTTCAGAGCCAGTTGGCTCACCAGACAGAACAAAAG
Seq A exon
GATTTGAAACAGCCCATGGCTGAAAGGAAAGCTCAGCTGGATGCTCTTGCTTTTGATATTCAGTTCTTTATCTCAGAACATGCCCAGGACTTGTCCCCTCAGCAGAATCGACAGATGCTGAGGCTTCTGAATGAACTGCAGAGGTCCTTCCAGGACATTTTGGAACAGACTGCCGCTCAGGTGGATGCCTTGCAGGGCCATCTTCAACAAATGGAGCAGGAAGCCCTGGTGAAG
Seq C2 exon
ACCCTGCAGAAACAACAAAATACCTGTCACCAGCAACTGGAGGATCTTTGCAGTTGGGTAGGACAGGCAGAAAGAGCACTGGCAGGCCACCAAGGCAGAACCACCCAGCAGGATCTCTCTGCTTTGCAGAAGAACCAAAGTGACTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX2-6/6=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.207 A=0.051 C2=0.502
Domain overlap (PFAM):

C1:
NO
A:
PF0043516=Spectrin=PD(58.0=83.3)
C2:
PF0043516=Spectrin=PU(40.7=92.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCTCAGAAAAAGAGAAGAAACA
R:
TCAAGTCACTTTGGTTCTTCTGCA
Band lengths:
284-518
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