Special

HsaEX0042150 @ hg19

Exon Skipping

Gene
ENSG00000163046 | NCRNA00164
Description
ankyrin repeat domain 30B-like [Source:HGNC Symbol;Acc:35167]
Coordinates
chr2:132914546-132919326:-
Coord C1 exon
chr2:132919061-132919326
Coord A exon
chr2:132914882-132914996
Coord C2 exon
chr2:132914546-132914719
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
GGGCGAGCAGCGGGAGGCACGGGCTCTCTCTAGCAGGTGGCTGCAGCCATGGAGAGGCTCTCTGCCGCCCCTGTCAAGGGCCAGACGGGCCCAGAGCGCCCGAGCCCCTTCAGTCAGCTGGTCTACACCAACAACGACTCTTACGTGATTCACCATGGGGATCTCAGGAAGATCCACAAAGCTGCCTCCCGGGGCCAAGCCTGGAAGCTGGAGAGGATGATGAAGAAGACGACAATGGACCTGAACATAAGAGATGCGAAGAAGAG
Seq A exon
GACTGCTCTATACTGGGCCTGTGCCAATGGCCATGCAGAAGTAGTAACACTTCTGGTAGATAGAAAGTGTCAGCTTGACGTCCTTGATGGTGAAAACAGGACCATTCTGATGAAG
Seq C2 exon
GCTCTGCAATGCCAGAGGGAGGCTTGTGCAAATATTCTCATAGATTCTGGTGCTGATCCAAATATTGTAGATGTGTATGGCAACACAGCTGTCCATTATGCTGTTAACAGTGAGAATTTGTCAGTGGTGGCAAAATTGCTGTCCTGTGGTGCAGACATCGAAGTGAAGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163046-'1-5,'1-4,2-5
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.267 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF127962=Ank_2=PU(62.5=68.5)
A:
PF127962=Ank_2=PD(36.2=74.4),PF0002325=Ank=PU(21.2=17.9)
C2:
PF0002325=Ank=PD(72.7=41.4),PF127962=Ank_2=PU(27.5=43.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCTTCAGTCAGCTGGTCTA
R:
GGACAGCTGTGTTGCCATACA
Band lengths:
256-371
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