Special

HsaINT1043733 @ hg38

Intron Retention

Gene
ENSG00000266733 | TBC1D29
Description
TBC1 domain family member 29 [Source:HGNC Symbol;Acc:HGNC:24509]
Coordinates
chr17:30559566-30560182:+
Coord C1 exon
chr17:30559566-30559726
Coord A exon
chr17:30559727-30560116
Coord C2 exon
chr17:30560117-30560182
Length
390 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
ACCTCTGTTCCTCCCATCAGGAC
3' ss Score
12.11
Exon sequences
Seq C1 exon
TTCCAGCTGATGGCTCCACATCTTGGGGGAAGGCTCTGATTTCATGACGGGCTGGGGGCTTCTCAGGATTCCACAGCCCAAATGGCGGGACAGTTCAGGGGCTCCAAGACCATCAGGAGCATGTGGTACCCACATCACAACCCAAGACCATGGGGCATCTG
Seq A exon
GTGAGTTTATGGTCCCCTCGGCTCTTCCCCAGAGGCCCTGCATCCTGGGGGGCTGGAGGAACAGCGGGGGCTGCAGCCCCTCATGGGGCTGGTGACAGGCTGAGTCCCAGCCAGGGCCTGACCTGGGATGTCGGGTTCCCCATGGGCTGGGAGTTGGGTTTCCTTTCCAGCCCTGGAGGAGACAGAGGCACAGGGATGGGGGCCCTGCTCCCACAGAGAAGGGCTAAGGGCAGTGTGTCCACCGGGAGTGCCGGAAGGGGAAGATGTTGCGGGGAGCCTGGGACACTGCCCAGTGTTCTGCACTCGGGGAAGGGTCTTCAGAGGGCCCTGGAAGAGGGAGGTTTTTAGGGCAGCCCATGGGGCCCTGAGCACCTCTGTTCCTCCCATCAG
Seq C2 exon
GACAAGGAAGGTCTATGCACACAGGGTTCCTCATTCAGCTGGCTTCTCCGGGTGCTGAATGATGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000266733:ENST00000579181:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

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

C1:
PF0056613=RabGAP-TBC=PU(4.8=75.0)
A:
NA
C2:
PF0056613=RabGAP-TBC=FE(33.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGATGGCTCCACATCTTG
R:
CCCATCATTCAGCACCCGG
Band lengths:
222-612
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains