Special

HsaINT0173487 @ hg38

Intron Retention

Gene
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132900715-132901699:-
Coord C1 exon
chr9:132901589-132901699
Coord A exon
chr9:132900838-132901588
Coord C2 exon
chr9:132900715-132900837
Length
751 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TGCTCATGTTTTTTGGTTAGCTC
3' ss Score
5.09
Exon sequences
Seq C1 exon
ACGAAGCTGGAGGACTGCAGGAACATGATTGCGGAGCTGCGGATAGAACTGAAGAAGGCCAACAACAAGGTGTGTCACACTGAGCTGCTGCTCAGTCAGGTTTCCCAAAAG
Seq A exon
GTAAGAAGAAATGAGGCAGACCTGAATCTGCTGAAACACCATTTGCTAACATTCTTCCTTCAGACAGGTTAAAGAAATAGATTACTTGAGTGTCTGTGTCATGGGTTCCCAACAGGAAGTGGTTCTGCTGCCCCCATAGTCCCTGACATTTGGCAATGTCTGGAGACATTTTAGGTTCATGTTTTTGGTGCTGCTGGTATCCAGTGGGTAGGAGCCAGGGTGCTGCCAAATATCCTACAATGCACAGGCAGCCCCCTGCAACAAAGAAGTATCCATCCTAAACCCTGCTCTATGTGTATCCCATGGAACTCTTTCTTCATACCTTGTTTACATAAATGTCAAAAGTTTGTTCAGGTTTTTGAGCGTGATTCCTCCTTCTTTGGGAATCACTGCACTTCATACATCATTTTGTCAAGAACGGTGAGTTTTCCCTAGGGCTTTATGCCACTGGGCCTTGGTGGTATACCTGTCCACCTTCTCCAGGTGTTCTGTGGGTGGTCAGTTTGATGGACTGCATTTGTGCTGTCCCCTTTGCAAAGCACAGTTCTGAAGTGTGTTTCTGTCTATTTTTGTTGTCCTTGGGTACCATCCTCCCCACCTGCCATTATGTCAGGGACTGTGAACCCATGGGACTGGTTTATTTTGCCTTAACATTGAAATAGTGTGCTCCTAGCTGATTCCCTGTTTAATGACGTCTATGTGCTAGTTTTATGTCGTCGGATTTTTCACTTTGCTCATGTTTTTTGGTTAG
Seq C2 exon
CTCTCAAACAGTGAGTCGGTCCAGCAGCAGATGGAGTTCTTGAACAGGCAGCTGTTGGTTCTTGGGGAGGTCAACGAGCTCTATTTGGAACAACTGCAGAACAAGCACTCAGATACCACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:19
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=0.146
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGAAGCTGGAGGACTGCA
R:
TGTGGTATCTGAGTGCTTGTTCTG
Band lengths:
231-982
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains