HsaEX0001844 @ hg38
Exon Skipping
Gene
ENSG00000230124 | ACBD6
Description
acyl-CoA binding domain containing 6 [Source:HGNC Symbol;Acc:HGNC:23339]
Coordinates
chr1:180397516-180430262:-
Coord C1 exon
chr1:180430180-180430262
Coord A exon
chr1:180413366-180413471
Coord C2 exon
chr1:180397516-180397605
Length
106 bp
Sequences
Splice sites
3' ss Seq
CTTTCTTTTTTTTATTCTAGGGA
3' ss Score
11.8
5' ss Seq
GAGGTATGA
5' ss Score
8.55
Exon sequences
Seq C1 exon
ATACCAGAGAAGAAAGGAAAAGAAGCAAATACAGGTTTTGGTGGGCCAGTTATTAGTTCTCTATATCATGAAGAAACCATCAG
Seq A exon
GGAAGAAGACAAAAATATATTTGATTACTGCAGGGAAAACAACATTGACCATATAACCAAAGCCATCAAATCGAAAAATGTGGATGTGAATGTGAAAGATGAAGAG
Seq C2 exon
GGTAGGGCTCTACTTCACTGGGCCTGTGATCGAGGACATAAGGAACTAGTCACAGTGTTGCTGCAACATAGAGCTGACATTAACTGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000230124-'12-24,'12-17,17-24
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.337 A=0.017 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF127962=Ank_2=PU(30.1=77.8)
C2:
PF127962=Ank_2=FE(31.2=100)
Main Skipping Isoform:
ENST00000367595fB8538
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATACCAGAGAAGAAAGGAAAAGAAGC
R:
ACAGTTAATGTCAGCTCTATGTTGCA
Band lengths:
170-276
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development