Special

HsaEX0040352 @ hg38

Exon Skipping

Gene
Description
macrophage stimulating 1 [Source:HGNC Symbol;Acc:HGNC:7380]
Coordinates
chr3:49685860-49686481:-
Coord C1 exon
chr3:49686313-49686481
Coord A exon
chr3:49686062-49686192
Coord C2 exon
chr3:49685860-49685962
Length
131 bp
Sequences
Splice sites
3' ss Seq
TGAGTGGAGCGCCTGCTTAGAGA
3' ss Score
-3.46
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
GGTCCGAGGCACAGCCCCGCCAAGAGGCCACAACTGTCAGCTGCTTCCGCGGGAAGGGTGAGGGCTACCGGGGCACAGCCAATACCACCACTGCGGGCGTACCTTGCCAGCGTTGGGACGCGCAAATCCCGCATCAGCACCGATTTACGCCAGAAAAATACGCGTGCAA
Seq A exon
AGACCTTCGGGAGAACTTCTGCCGGAACCCCGACGGCTCAGAGGCGCCCTGGTGCTTCACACTGCGGCCCGGCATGCGCGCGGCCTTTTGCTACCAGATCCGGCGTTGTACAGACGACGTGCGGCCCCAGG
Seq C2 exon
ACTGCTACCACGGCGCAGGGGAGCAGTACCGCGGCACGGTCAGCAAGACCCGCAAGGGTGTCCAGTGCCAGCGCTGGTCCGCTGAGACGCCGCACAAGCCGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000173531-'18-21,'18-19,21-21
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.105 A=0.000 C2=0.114
Domain overlap (PFAM):

C1:
PF0005113=Kringle=PU(53.2=73.7)
A:
PF0005113=Kringle=PD(45.6=80.0)
C2:
PF0005113=Kringle=PU(41.8=94.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAGAGGCCACAACTGTCAG
R:
CTTGTGCGGCGTCTCAGC
Band lengths:
248-379
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