HsaEX0042152 @ hg38
Exon Skipping
Gene
ENSG00000163046 | ANKRD30BL
Description
ankyrin repeat domain 30B like [Source:HGNC Symbol;Acc:HGNC:35167]
Coordinates
chr2:132147591-132154768:-
Coord C1 exon
chr2:132154662-132154768
Coord A exon
chr2:132150912-132150976
Coord C2 exon
chr2:132147591-132148228
Length
65 bp
Sequences
Splice sites
3' ss Seq
TATTTCATTTTTATACATAGCGT
3' ss Score
6.29
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GCTGGCCACACACCACTTTTACTGGCCATAAGGAAAAGAAGTGAGGAAATTGTGGAATTTTTACTGACAAAAAATGCAAATGCAAATGCAGTTGATAAGTTTAAATG
Seq A exon
CGTTCATCAACAACTTTTGGAATATAAACAAAAGATATCTAAAAATTCTCAAAATAGTAATCCAG
Seq C2 exon
AAGGAACATCTGAAGGAACACCTGATGAGGCTGCACCCTTGGCGGAAAGAACACCTGACACGGCTGAAAGCTTGGTGGAAAGAACACCTGATGAATAGGATACAGTGAATTCCTCTTCAAAGATTTTAGCCTGTAAACATCCTTTAAAATTCAAGAGGGGGAAGATTAAGTACAATGAGTTCTGAGTTCCTCATCAAAGAACAAATATGTCAGTATGTTCAGCTTCTCTGTTCTTTGTTCTCCGTTTTAAAGTTTAACTTCCTCGTTCGTTATGCCTCCTTGCCCCTAGTTTCATTAAACAGCCCCCTTCTAGCCTCTAACACCTGCTTTGTCTTTAGTCATTCTTAGTAACCTGCTCTGTCCTTAGTCATCCTTAGACACCTGCTCTGTAACTGTCTTTCCCGCTGAAACTACTCACCCTGCCACTCCAGCTCATACCCCTGCCCTCTTTAAATAGCCAATCTGAATTGGCTTAGAGTGTGCAGTCCAACCCTATCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163046-'7-16,'7-14,12-16
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.522 C2=1.000
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PD(33.3=86.1)
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGCCACACACCACTTTTA
R:
TTTCAGCCGTGTCAGGTGTTC
Band lengths:
176-241
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