Special

HsaEX7001994 @ hg38

Exon Skipping

Gene
Description
macrophage stimulating 1 [Source:HGNC Symbol;Acc:HGNC:7380]
Coordinates
chr3:49686313-49687067:-
Coord C1 exon
chr3:49686947-49687067
Coord A exon
chr3:49686684-49686802
Coord C2 exon
chr3:49686313-49686481
Length
119 bp
Sequences
Splice sites
3' ss Seq
CGCCCCATTACCGCCCCCAGGTT
3' ss Score
6.5
5' ss Seq
GCGGTAGGC
5' ss Score
7.2
Exon sequences
Seq C1 exon
CCGCGTGTGTCTGGTGCAATGGCGAGGAATACCGCGGCGCGGTAGACCGCACGGAGTCAGGGCGCGAGTGCCAGCGCTGGGATCTTCAGCACCCGCACCAGCACCCCTTCGAGCCGGGCAA
Seq A exon
GTTCCTCGACCAAGGTCTGGACGACAACTATTGCCGGAATCCTGACGGCTCCGAGCGGCCATGGTGCTACACTACGGATCCGCAGATCGAGCGAGAGTTCTGTGACCTCCCCCGCTGCG
Seq C2 exon
GGTCCGAGGCACAGCCCCGCCAAGAGGCCACAACTGTCAGCTGCTTCCGCGGGAAGGGTGAGGGCTACCGGGGCACAGCCAATACCACCACTGCGGGCGTACCTTGCCAGCGTTGGGACGCGCAAATCCCGCATCAGCACCGATTTACGCCAGAAAAATACGCGTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000173531-'12-17,'12-16,17-17=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.317 A=0.049 C2=0.105
Domain overlap (PFAM):

C1:
PF0005113=Kringle=PU(48.7=92.7)
A:
PF0005113=Kringle=PD(50.0=95.1)
C2:
PF0005113=Kringle=PU(53.2=73.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGCAATGGCGAGGAATAC
R:
GTAAATCGGTGCTGATGCGGG
Band lengths:
258-377
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains