Special

HsaEX7007154 @ hg38

Exon Skipping

Gene
ENSG00000139567 | ACVRL1
Description
activin A receptor like type 1 [Source:HGNC Symbol;Acc:HGNC:175]
Coordinates
chr12:51906908-51912535:+
Coord C1 exon
chr12:51906908-51906993
Coord A exon
chr12:51907497-51907695
Coord C2 exon
chr12:51912470-51912535
Length
199 bp
Sequences
Splice sites
3' ss Seq
AAGAAACATTTTTGCTCCAGCCC
3' ss Score
3.54
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
AAAACGCATCTGGATTTTGCTAGCCCCAAACTCTGCCCTCATTGCTGCAAGCCTCCTAGACCGAGGACCCCCGGGCTGAGGGTGGG
Seq A exon
CCCCCATCCCAGTCCCGGGAGGCTGCCGCGCCAGCTGCGCCGAGCGAGCCCCTCCCCGGCTCCAGCCCGGTCCGGGGCCGCGCCCGGACCCCAGCCCGCCGTCCAGCGCTGGCGGTGCAACTGCGGCCGCGCGGTGGAGGGGAGGTGGCCCCGGTCCGCCGAAGGCTAGCGCCCCGCCACCCGCAGAGCGGGCCCAGAG
Seq C2 exon
GGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139567-'3-7,'3-2,6-7=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

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

C1:
NA
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
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:
CGCATCTGGATTTTGCTAGCC
R:
TGGGTCACCAAGGCCATCAG
Band lengths:
146-345
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains