Special

HsaINT0164008 @ hg38

Intron Retention

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:6999085-7001251:+
Coord C1 exon
chr4:6999085-6999202
Coord A exon
chr4:6999203-7001144
Coord C2 exon
chr4:7001145-7001251
Length
1942 bp
Sequences
Splice sites
5' ss Seq
AATGTAAGA
5' ss Score
5.55
3' ss Seq
CTGCTTCTGTTTTTGTCCAGGTG
3' ss Score
10.6
Exon sequences
Seq C1 exon
AGCTGAAAGAAGCCCAGCGAAGGAAGAAGCAGCTGGAAGAAAGATGCAGAGTCGAGGAAAGCATTGGAAACGCTGTGCTCACCTGGAATAATGAGATCTTACCTAACTGGGAAACAAT
Seq A exon
GTAAGATGTGGCTCTGGGTGTGGCTGAACTGCAGAGCATGTCTTTCTAGAATCTGTGGGCCACAGCTGTAGTCGTCATAGCCAGCAGTGACACCCTGGATGCAGCGAGTTGAAGTTGCATCATCTTCCTTCCCTCTACCCTGGCTCAGCCTGCGCCATCCCTTGCTTGGAGACTGTGATAGCCCCTTCCCCTCCCTTCCAGTTCACCTTCTTCTCATCTCCTGAGCCAGCTTCTAAAGCATGAGTCAGTGTCCCCTCCCTTACCTAGAATTTCAGTAACTTCCTGTGACTGTCAGTACACAGTTTGAACCCTTAGCAGGCAACACCCTTAGTGAGGTGGCCTGCCTTCCTCGGCAGCCTCACCCTCGGATGCCTCTCCTCCACTTGGACAGAGCCCTCTCCCTAGGGAGCCCCCCATAGGTGTTGCTCCTTTTAAACCTGGGGCCTCGCATGTTCCAGGCCCTGTGTCTGGAGTGCTCTTGTCCTGTACTTCCTCAGCCAGCAAACTCCTGTGTGCTCTCCAAAGCTCAGGGAAGACTTTGCTGCCCCTACCCTGGCTCTAGGGCCCTGTGGTTCTGTGTGCACACAGCTGTCTGTTCAGGCCTCTGTCTTCCTCTCTTTGAGGATAGTGACCCCAGTGTCCAGTAGAGTGCACCTGGCAGAGTCTGGCAGCTGCTGCCCTCTTTACATCTGAGGGGCAGCTGTGGGTCTTGTTTTTATTCTCGTGTTCAGAACGGTGGGGGCCAGTGTGCGGGCAGAAGTCCCAAGGCTGCGCACAGAGGCATTCGGGGAGCTTGGATGCCAGCTTCCCTTCTGCTCTCGTCCCACATGTCAGCACTGCAGGGGTCACGCGGCCCTGCTCAGGGTCTCCACTAGGAAAATATGCTCAGAGCATGCTTTTTAAGGCAGTATCCTCAAAAGGCTGGATGCTGTCAGGAAACACTTTATACCTGTTCTCGCATGGGATCTAGTAACAAGGACAGAGGTTCTCAGAATGCTTGCTGCTCCCACCGAGGGAGACCACTCTGGTCTGTCCTGCAGGGCCGTGGGTTGGATGTGGTCTGAATGCATTGCATGCAGACCCACAGCAGTTCCCGTCGACTGCACACGGACGCTGCCTGGCACTGTTCTCCGTGCTTTTGTACTTTATCTCACTTCATCCTCACAGTGGCCCTTGGGTGTAGGTTTCATCGTCTTGACTTTCGAGAGGATGGTATAGGTTCAGAGAGGAGAGATCATTTGTCCGGATTCCACAGGTAAGGATGGAGTTAGGATGCAGCCTGCTTTCTGCAGCCTCAAGCCTGTGCTCCCCACGATGCTGCGTTCAGAGGCACCACGGGGGCCTGGTTTGCCCAGGCTGTTGGCAGTGTGTGTTCCGTGTCCCAGCAGAGCTGAAGGACTCTGTACAGCCTACAATGTTCTGAGTCAGCAGTTCTTCTCCGCAGTTAGAACTTGCCAGCTCACATCTGGGCGCTGGGCCTGTATTGGTGGTGCGATGGCCGTCTGCTGACTCTCTGCTGGGGTCTGCTTCTGTCTCCAGTGCTGCTGCAGTGCCGCCTGGCACTCCTCACCCACTCCCAGCTATGTGCTGTTCCTGTAGGAGGCCAAGCCATTGCTTTTTCCTGTGTTTTCTGCTCAGAAAGTCCTCCCCATCCTTCATGTGCTCAGGTCATTCAGAACTTGGCCCCAGAGCGTGCCTGGGCCTCTGGTTCGTGGTGACCTACGCTATGCTGTGCTCCTCCATACCTGCCACGGCAGCTGCCAGTGGAAGGGGATTGTTGATTTGATCTTTACAGAGCCCTGGACTCTAAGCTTCCTGAGGGCAGGGGCTGTGCCTGATGCAACGGTGCATCCCAGCTCTTGGTGGTTCGGGGCTAGGCACGCAGGTAGACAAATGTCTTTGTGTGGAACAAACTCAAACTCCTGCTTCTGTTTTTGTCCAG
Seq C2 exon
GTGGTGCTCTAGAAAAGTTCGAGATTTATGGTGGCAGGGAATCCCTCCAAGTGTGAGAGGCAAAGTCTGGAGCTTAGCCATTGGCAACGAGTTAAATATCACCCACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405:ENST00000409757:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.166 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0056613=RabGAP-TBC=PU(12.5=54.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAAAGAAGCCCAGCGAAGG
R:
CGTGGGTGATATTTAACTCGTTGC
Band lengths:
223-2165
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains