HsaINT0008797 @ hg38
Intron Retention
Gene
ENSG00000180777 | ANKRD30B
Description
ankyrin repeat domain 30B [Source:HGNC Symbol;Acc:HGNC:24165]
Coordinates
chr18:14752566-14753012:+
Coord C1 exon
chr18:14752566-14752680
Coord A exon
chr18:14752681-14752838
Coord C2 exon
chr18:14752839-14753012
Length
158 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
3' ss Seq
TCTTGCTTTAATACTGACAGGCT
3' ss Score
5.17
Exon sequences
Seq C1 exon
GACTGCTCTACACTGGGCCTGTGTCAATGGCCATGCAGAAGTAGTAACATTTCTGGTAGACAGAAAGTGCCAGCTTAATGTCCTTGATGGCGAAGGGAGGACACCTCTGATGAAG
Seq A exon
GTAAATAGTAGCCAGTTTTTTCAGCGGGAGATGGATTTGGTTTAAATACATAGAATAAAAATGAATTTAGTTGAAATACAACTAGTTTGTGAAACCTGTGGAATACTTATTTTGATTTCCTATAATTTATAATGTACTTCTTGCTTTAATACTGACAG
Seq C2 exon
GCTCTACAATGCGAGAGGGAGGCTTGTGCAAATATTCTCATAGATGCTGGTGCTGATCTAAATTATGTAGATGTGTATGGCAACACGGCTCTCCATTATGCCGTTTATAGTGAGAATTTGTTAATGGTGGCAACACTGCTGTCCTATGGTGCAGTCATCGAGGTGCAAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000180777:ENST00000358984:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0002325=Ank=PD(90.9=76.9),PF127962=Ank_2=PU(2.2=5.1)
A:
NA
C2:
PF127962=Ank_2=PD(24.2=39.7),PF0002325=Ank=WD(100=56.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGTCAATGGCCATGCAGAA
R:
CTGCACCATAGGACAGCAGTG
Band lengths:
250-408
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