Special

HsaINT0164151 @ hg19

Intron Retention

Gene
ENSG00000162065 | TBC1D24
Description
TBC1 domain family, member 24 [Source:HGNC Symbol;Acc:29203]
Coordinates
chr16:2546035-2548397:+
Coord C1 exon
chr16:2546035-2547114
Coord A exon
chr16:2547115-2548238
Coord C2 exon
chr16:2548239-2548397
Length
1124 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGT
5' ss Score
9.65
3' ss Seq
CCCCTGCTCGCTCCCCTCAGGCA
3' ss Score
10.34
Exon sequences
Seq C1 exon
GGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAG
Seq A exon
GTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAG
Seq C2 exon
GCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162065-TBC1D24:NM_020705:2
Average complexity
IR-C
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=WD(100=64.6)
A:
NA
C2:
PF0753411=TLD=PU(14.4=24.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGGTCTTTGACGTCTTCCTG
R:
CTCTCATCTCCCTCACGCTGA
Band lengths:
358-1482
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