HsaEX6038242 @ hg38
Exon Skipping
Gene
ENSG00000180777 | ANKRD30B
Description
ankyrin repeat domain 30B [Source:HGNC Symbol;Acc:HGNC:24165]
Coordinates
chr18:14748240-14753012:+
Coord C1 exon
chr18:14748240-14748640
Coord A exon
chr18:14752566-14752680
Coord C2 exon
chr18:14752839-14753012
Length
115 bp
Sequences
Splice sites
3' ss Seq
AAGTCCTCTCACTCTCGTAGGAC
3' ss Score
6.87
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
CAAGAGCTTGGCGATACAGAAATTTCTGCTGGTGTTGGGGCGGGTGCGGGAACTGAAGACGGGCGAGTGCGAGCCGGGGGCGGGTGCTGGGGAAGGGTAAGCGGGAAGCGAGGGCGAGGGGTAGGGGCTGGGGAAGGGCGAGCGGGAGGCGCGGGCTCTCTCTAGCAGGGGGCTGCAGCCATGAAGAGGCTCTTAGCTGCCGCTGGCAAGGGCGTGCGGGGCCCGGAGCCCCCGAACCCCTTCAGCGAACGGGTCTACACTGAGAAGGACTACGGGACCATCTACTTCGGGGATCTAGGGAAGATCCATACAGCTGCCTCCCGGGGCCAAGTCCAGAAGCTGGAGAAGATGACAGTAGGGAAGAAGCCCGTCAACCTGAACAAAAGAGATATGAAGAAGAG
Seq A exon
GACTGCTCTACACTGGGCCTGTGTCAATGGCCATGCAGAAGTAGTAACATTTCTGGTAGACAGAAAGTGCCAGCTTAATGTCCTTGATGGCGAAGGGAGGACACCTCTGATGAAG
Seq C2 exon
GCTCTACAATGCGAGAGGGAGGCTTGTGCAAATATTCTCATAGATGCTGGTGCTGATCTAAATTATGTAGATGTGTATGGCAACACGGCTCTCCATTATGCCGTTTATAGTGAGAATTTGTTAATGGTGGCAACACTGCTGTCCTATGGTGCAGTCATCGAGGTGCAAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180777-'4-3,'4-2,5-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.284 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PU(33.7=43.2)
A:
PF0002325=Ank=PD(90.9=76.9),PF127962=Ank_2=PU(2.2=5.1)
C2:
PF127962=Ank_2=PD(24.2=39.7),PF0002325=Ank=WD(100=56.9)
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:
CTTCAGCGAACGGGTCTACAC
R:
GCCGTGTTGCCATACACATCT
Band lengths:
251-366
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains