HsaEX0042150 @ hg38
Exon Skipping
Gene
ENSG00000163046 | ANKRD30BL
Description
ankyrin repeat domain 30B like [Source:HGNC Symbol;Acc:HGNC:35167]
Coordinates
chr2:132156973-132257969:-
Coord C1 exon
chr2:132257529-132257969
Coord A exon
chr2:132157309-132157423
Coord C2 exon
chr2:132156973-132157146
Length
115 bp
Sequences
Splice sites
3' ss Seq
AAGGCCTCTCATTCTTGTAGGAC
3' ss Score
7.49
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
AGATGACGCGTGCGCCGGCCGGCCGCCGAGGGGCTACCGTTCTGCCTCCGACAGGTTGTGTGTGGGTTTACTTGGAGGTGCTTTGCCTGGGAGAAAGGAGGCTGGTGGACTAGGGGGCCCTTCGGGGATTGCGCGCACGCGCAGCGGCCAGGCCCCCTGCCCAGACCGCGAAGGCTCAAGGTTGCCGCACGCAGATTTTTCCTGGTACCGCAGGCCCCCTCCCTTCCCCAGGCGTCCCTGAGCGCCTCTGCGGGCCCGACGAGGGGCGACTGGCGTGTGGGGAGTGTGACCCACCCTCGGTGAGAAAGCCTTCTCTAGCGATCTGAGAGGTGTGCCTTTGGGGTACCGGATCCCCCGGCCTGCCGCCTCTCTTTGCGTTATGGTAGCGCTGCCGTGGCGACTGGCTTGCAGAGGACCCTCCTCCACTTCCCCCTTGATGAG
Seq A exon
GACTGCTCTATACTGGGCCTGTGCCAATGGCCATGCAGAAGTAGTAACACTTCTGGTAGATAGAAAGTGTCAGCTTGACGTCCTTGATGGTGAAAACAGGACCATTCTGATGAAG
Seq C2 exon
GCTCTGCAATGCCAGAGGGAGGCTTGTGCAAATATTCTCATAGATTCTGGTGCTGATCCAAATATTGTAGATGTGTATGGCAACACAGCTGTCCATTATGCTGTTAACAGTGAGAATTTGTCAGTGGTGGCAAAATTGCTGTCCTGTGGTGCAGACATCGAAGTGAAGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163046-'0-8,'0-7,3-8
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF136371=Ank_4=PD(35.8=48.7),PF127962=Ank_2=PU(21.6=41.0)
C2:
PF0002325=Ank=PD(72.7=41.4),PF127962=Ank_2=PU(27.5=43.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCCTCTCTTTGCGTTATGGT
R:
CACTTCGATGTCTGCACCACA
Band lengths:
243-358
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development