Special

HsaINT0164000 @ hg38

Intron Retention

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:7009877-7010781:+
Coord C1 exon
chr4:7009877-7009948
Coord A exon
chr4:7009949-7010652
Coord C2 exon
chr4:7010653-7010781
Length
704 bp
Sequences
Splice sites
5' ss Seq
TATGTAAGT
5' ss Score
6.69
3' ss Seq
GCCTTTCTCTCCTCTCTCAGGTC
3' ss Score
12.68
Exon sequences
Seq C1 exon
GGTGGTCCATATCATGACATGTTGCACAGTATTTTGGGCGCTTATACTTGTTACCGGCCAGATGTGGGTTAT
Seq A exon
GTAAGTGAAGTTTCTCAGTATTTTATAATGTTGTTATCTAAAAAGAAAGTCAGATATTGTCCAGCACGTGTTAGCTGCAAATGTCATGCCAGTGCCTTCGTTTTTGCCGAGGAGTATGAAAAGTCTCGTGGTAAGTGAGTTAAGTGAGTTGACTCAGGTTCCTCTTAAAGAAATTGAGCTGTCGTGGCTGCTCTGGGGCATTAATCACATTTTAATCGAATGCAATTTTCATTTTTGGCATGTGACTTTTTTCCAACATTAAATCAAAGAAACCTTAACCACGTTAAAAGCAGCAACCATTAAAAAGCACTGCTGATACTTCTGTGGCTTCGCGGATGTGTGTGCGCATGCATGGTTTGATATTAAGCTTATTGAGATAGATAACACAAGTCTACGGCACCGGGACACTGGACATAGGAAAGAGCAGTATTTCAGATGCTCTGGGCCTAAGAGGGCTGGTTTAGGGTTTTCCATTTGCGGGGTGGGAGCAGGGGTGGGAACTGAAGGAGAGCAGGCCGGGTGGCTGGGGTGGCAGAGTGGTGGTTCTGAGTGAGGGCAGTTCAGCGTTGGGTGGCCGGAGGAGTGGGGCGGCTCTAGGGACACTTCTAGTGTGAGGGTGGTAGGTTTGTCTTTGCTAAAAATGAACACACTACGGTGACCCTGTGGCCACTGTGATTTTAACGTGCCTTTCTCTCCTCTCTCAG
Seq C2 exon
GTCCAGGGCATGTCCTTCATAGCAGCAGTGTTGATCTTGAACTTAGATACTGCAGATGCCTTTATTGCCTTTTCTAACCTTCTGAATAAACCCTGTCAAATGGCGTTTTTTAGAGTGGACCATGGCCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405:ENST00000409757:10
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(10.1=100)
A:
NA
C2:
PF0056613=RabGAP-TBC=PD(60.0=92.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTCCATATCATGACATGTTGCA
R:
AGGCCATGGTCCACTCTAAAA
Band lengths:
198-902
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains