HsaINT0163975 @ hg38
Intron Retention
Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family member 12 [Source:HGNC Symbol;Acc:HGNC:29082]
Coordinates
chr10:94521955-94522453:+
Coord C1 exon
chr10:94521955-94522083
Coord A exon
chr10:94522084-94522343
Coord C2 exon
chr10:94522344-94522453
Length
260 bp
Sequences
Splice sites
5' ss Seq
ATGGTATGA
5' ss Score
6.56
3' ss Seq
ATTGATTTTTTAATCTTTAGATG
3' ss Score
7.33
Exon sequences
Seq C1 exon
GTCCAAGGGATGTCCTTCATTGCAGCAGTACTCATTCTCAATTTGGAAGAGGCAGATGCCTTTATCGCATTTGCCAATCTCCTGAATAAGCCATGCCAGTTGGCCTTTTTTCGTGTGGATCACAGCATG
Seq A exon
GTATGAATGGATCATGTTTTCCATTGTTTCTGTAGTTTGAATGCCCTCTTAGAGTGAAAAACAATAATTAGAAGGCCAAAACAATCTAATCTAATATAAACTTATCATTATATTATAGTTTATTAATGAATGTTTGCTGAGAAGACTCAGAAAAAGATGAGATTCTTAATGAGCACGATTTCCTGTTAGTGTTTAAGCGTTTAATTTCTTTATTTCTAGACTATATACTTTCATAATTTTATTGATTTTTTAATCTTTAG
Seq C2 exon
ATGTTGAAATATTTTGCAACATTTGAAGTATTCTTTGAAGAAAATCTTTCCAAATTATTTCTTCACTTCAAATCTTACAGTCTTACACCAGATATATACTTGATAGACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239:ENST00000225235:10
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:
PF0056613=RabGAP-TBC=FE(18.6=100)
A:
NA
C2:
PF0056613=RabGAP-TBC=FE(15.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGATGTCCTTCATTGCAGCA
R:
TCTGGTGTAAGACTGTAAGATTTGA
Band lengths:
215-475
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains