HsaINT0173496 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132912282-132921436:-
Coord C1 exon
chr9:132921363-132921436
Coord A exon
chr9:132912458-132921362
Coord C2 exon
chr9:132912282-132912457
Length
8905 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAG
5' ss Score
7.98
3' ss Seq
ACTTTCATTGCATTTTACAGGTG
3' ss Score
9.75
Exon sequences
Seq C1 exon
CCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGAAG
Seq A exon
GTATAGAAACTAGTGTCAAAATTTTAAAGAATCTTTCGAGAGATTGAAAATGTGATCTAGGAGGTAATCCCTGTTGAGGTATATTTGGGAATATAGATGTTCTACTTACAGAATCAGTCCACTTGGAAGCACTCATACAGCTAAAATTTGTGTGAGTTTAAAACATACTCTTCACAGGCGGAGGACTAATAACATTTAGCAGAGTGGAGAAAGTTGCAGCACAAGTGCCTGTCCCCCAGAAAGGCTTACACCTCAGTAGTGCCAGTGATGGGGCGATGCAGGAGGTGAAGCATATGGCTAAAAACAAGGGGACTGCAGAAAAACAATTTAGCATATATATAAATCTGGCTTTGCAAAATGGAGAAAGGACTTCAGGGAGTCCTATATTAAGTATTTGGAGTCCCTGAGGTCCTTTCTCCATTCTGCAAAGCCAGTTGACTATACCATCCTCCCCAGGGCCCTACAGAGGCCCCCAGGTATGTTCTCTGGAAAAACCGAACCTTTGAGTCCCTTGATTGAAGGATTCCAGGCACAGTGGAGAGTGGAACTGAGGGTAAGACTGAGCGAGGGAGATAAAGGAAATTTACAGACTGAGCTGTGGGAGGCCCAGCTCCTTCCCTCTGCTTGTCTCTGCCTGGTAGCCAGGCTTATTATGCTCCCCAGTTAGGGGAGCTGGCCCTTTTTGGGGAAACTGACCCATGGATACTGACACTTAGGGATCTCCTGCTGAAAAAGCTAGCTCACTGCCTGATCCCCCAACAGCGAATCTCACCTCACCACAGACACTGCCTCTACCACACAGAGCCTCAGCCAGCTTAAAGCAGTTTATTGTGAGATTATATGTAGAGAAGTATAGAAAATGTGTATGTAAAGTTTAATAATAACACAAAAACACATGTAGCTGGCACCTAGCTTAAAAAAAACAGAACATTACTGGTACCTTAGAGGCTCCCCGTGGAGAACCCCTCTTTTCTCCCTACTACCTCAGAGACAACTACCATTGTTGCTTTTAATCATTCTCTTGCTTTTCTTTGTAGTTTTACTGTAGGTATTGCTTTGTTTTGAAAAGCTAGTTGACTAGGAGGCAAAGCCTGGTTAAGAGAAGGGCAGTCTTGTCACTAGTAGTTGAAGGTTTCCAGGAGATGAGAGGAGGACCAGCGCATCTGAGTCTTGGTGTGGTTTCACTGTCCCTGAGGTTTCACAGCCCCTTCTGGGAAGTCAGTGCACAAGGTCATGAATGAGTCTGGGAAACACAAGGCTTACCCTCATCAGAGCGTCTGGCAAGGCTTCTAGCAAGGGCAAGGCACTGGACATGCGTGAAATATGGCAGGCAGGGAAGCTGCTCTCTGCGCCTGCTTTCAGCTCTCAGGAATAGGTCAGACAGAATCCTTCTGTGGGATAAAATGAATGTCCTCTGCTGATCAGACAGAGGAGGGAGAGTAGGAATTTCATCAGTATGTAGTTAAGACAAGCTAAGTACAGACAAGTTATACAGGCCAGGGTCACCTGGCTCTGTCCCTCATTAAAAAGATAGTGCAGGACAGCAGGAACTTTGAGACATGCCTGTCTCTTGGCAGCTGCTGTTCTGATCCGAACTGGTTCTCGTCTGTGCCTAGTACCCAGCTGTCATCCTAGTCTCCTGGGGCTTTCCTTCGCCTCTCTCCTGTGCAGGATCTCCCATTTCCTGTATCTTGTCTTCTTTCTTGGTTTACTCTTGTTTAATAGGACATAGCCTCTAGGAGCTTTTTGAGGAAGGATGCAGTGTTTTGGCTGGTGTAGACTTACAGGTTGAGAGTCGGTAATTTGAAGGCATTCAGTAATTTGAAGGCATTATTCCATTGCCACCCTGCTTCCAATGTTGCTCTTAGAATTTCTGATCATCTGTATTTGCTGTGTTTTTCTCTAGGGGAGCTGGTAGGGAGTTCTCTTTGTTGTCATAATATTCTGAAATTTCCAGTGATGTATGTTGGTATGAATCTATTCTCATTGTTCAAGCTGGAAGCTCTTCAAGTTCTATGATATTTTCTTTAGTTGTTTTGTGCTTGATTTCCTGTTTTCTCTGTCTTTCCTTCTAGAAATCCAGTTCATCCCTGCACCACATAATGACATTTCAGTCAATGATGGGCTCCATAGATGATAGTGGTTCTGCGAGATTATACCACCACATCTTTACCGTACCTTTCCTAGGTTCAGATATGTCTAGATACACAAATACCTACTGTTGTTACAGTTACTGCAGTCTTTAGTACAGTACCATGCTGTGCAGGTTTGTAGCCTAGGAGCCTATAACATCTAGTTTTGTATGAGTACACTCTGATGTTCACACAACAAAGAAATTGCCTAATGATGCATTTCTCAGAACATGTCACTGTCATTAAGTGACACATGACTGTATACTTATACAAGGAGTTTTCTTTTCCCTGCATAATCTGTTTCTTCTAAGCTTCCTTCTTTTCGGTTTTGTGTTATTCTTTTTAAATCTTTGAGGCCTTCTGCCAGGATCTAGTAAACTGTTTATATATGGGGAGACAAAACAGCTTTGTTCACAGTGGTGGGACTTGTTGACTTTGAGCTTTGTTGTATGTTGAACTGAGCATCTGTTGGAAATAGTGGTGTCGGTATTGTTTTCTTCTTGAGCTGGTCATGTTTTTTAGAAAGTAGTCTTCTGATTTTCAGGCTGGTAGGGGTCTGACTACCTCTGGGGGGAAAGAGGCTGGTGGTGAGGAAGGGTTGGTGGTCTGGGCATTCAGAATGTATATGCTTCACTTAATCCCCTCATTTGGAATGGCACTCATGCCCTCAACTACTTCTGGAATACTTTATCCAGGTACTCCTTGTTTTATTCTCTATAGAGAATAATCCAGGTTTCTGGTGAGAAAAGAGCTGTTGCTTGGGAGTGTAGAGTTGGGGCAGGACCCAGGGGTTGTGACTGCTCCTCCAGTGGTTTTCACTCTGTCTTCAGTATTTTAGCTCCCCTTGTCTACCTGCTGCTCATCTCCTGTTCCAGAAGTACCAGATGCTATAAGTTCCTCATGATTTTAAGGATTCTGTAGTATAATCAGTTGACTCTTCACTTTGAGACAGTGGCAGCTTAGGATTCTGCTTTTGTGGATTTGCAGTGTCAGTTACCACCTGCCTGTCTGTTTTTTAGTTTCAAAAACTTATGGTTCTATTCCCTCTCTCCTGTTCTCCTCCTTGTGGGTTTATATTTAAAAACAAAGAAGTCTTTACTGTAGACAGTGGGATTCCAGGAGGTTGTACAGTTGAGTGCATATGTTCAACCAACTATATTAACTTGGAAGGCTCCTCAGTCAGCTTATAGAGAGCCTCACTCACCTTGGCTGGGCAGATTGTTTGGCTTTGGAAGAAGGTTTTAACAGTAAAGACAGACACCAACATTAAGAGGAGAAAAGAGAGCTAGAACAAAACCATAATGATAGAGCAGAAGAAAATATCTACCATAGCCACAGAGATAAGATGTTTGTGCATATGTAAGCATCAGGATGCCACAGAAAAAGACCATTTTGAGACTAAAAGAACTCTTCAAAATTAAAAATGATAGCCAAAATAAACATTTCAGTAAAAGAATTGGGAGATACTTTTCTGAGATATAGGTAAATAGAAAGCAGAACCAAAGGATAGAGCTTGGTAATATGAGCAGAACAGAGATTTAGAATGATCAGTTCAGGAAGTCCCAGCATCCAATTAAAAAAAATTTTTTTTTAAAGAAGAGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCGGACGGGGGAGGATCTCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCCTCTCTACTAAAACTGCAAAAAATTAGTCGGGCATGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCTACTGCACGCCAGCCTGGGTGACAGAGCGAGAATCCATCTCAGAAAAAGAGAGAGAAGAAAACTTTGGTGGAGGAAGAAATTGTGAAAGAAATAATACAACAAAAAAAAAATCCTAGGATTGAAGGATATGAGTTTCCAGATTGAAGGGGCTTACCTGGTGCCCAGCTAAATCAATAAAAAAGAATGCCACCAGGTCTCAATATTGTAAAAGTTTATAGTACCAGGGATTAACCTTTCAGAGAAAGAAAAAAATGAAATCACATTAATAAGGATTAGAAATCAGAATGCTGTTAGCTTCTGAAATACCTTCAAAATTGAGAGAAAAAGGTTTTCAACTAGAATTCTATAGCCAGCCAACTTGTCTATCAAATATGAGACACTTTCAGATATGCATGGACTCAAATTTCCTTCCCATATGTCCTTCCTCAGTTAATCACTGGAGCATGTATTCCACCAAAATGAGAGTAAAATCATGAAGGAGGAAGACCGAATCCAGGAGACTGGGGCCTGATCATGACCGTTTTACAGGACCATGTCCAGGGAAAGTGTCAGGATAACAGGCAGTGCTGAGAGCAGCCAGTCCAATCTGAAGCCAGGGAGAGAGTGCTCCAGAAGGGAGCTCTTCTGGAAGATGAGGAATAATCCTGGTGGATTCTTTGCATTTCATTAGTAAAAGTTATATTAGGCATTGTTTCAGAGCTGTTAGAATACATTTAGGAAAAATTAGCAATAGACACACAAAAAAGTGAGGAAGAGAAACAGAACAATTAAAACTTACAAGAAAGGAAATATTATCATAGTATACTCTGTGGCTCAGCCATGAGTAGTACTTAGGTAGTCATAATGTTGAAATCAATTTTGAAAACAACAAAAACAGTTACATATTTATTTTGAGAGCATTGAGGAGGAGGGAAAGGATATATGGAAGAGTCCTCAATCCTCACTTCCCATTAATAGTAAGTTAATAGATGGTGTCTATAATTTATAAATCAAGAAATTAAAAGCACAGGGCATATTCTTTAGAACTATAGAGGCAGGATAACAATTCAGCTAACAGAATTGGAAGCAGCTGCCAGAGTGGTTGCAGTGGGGAGGGATGGGAGGAACCTTTAGTACCGTATTGACTTTTTAAACTACCATATTTCATTGGATCTCAGATGCCGTTAGATGTGTGCTGTACTTCTATTTTATATACATCTGAGAAAGAAAAAAATGCCAAGTAAACTAACATGCATTTGATTAGACGATGGTTCCCAGTTTTAGATATTAAAATATGAAAAGTCCTTTTAAGAAGCAGGGAAATACTGTAAGTGCATAAATTACTTTGATTAAAATAAAACATTTAAATGTATTCCTCTTTTATTATGATTCTCATTTTCTCCTCTAAAATCAATCTTCTTGTGTGTACACATGTGTCCTAACGCCTGCTCTCAATCACTTTCTAGTCATGCTGAGAATGCATAAATAGGAGCCTATCCCCATTAACAGGATCCCACAGGCAGTGAGAACCCAGGTAGTGAATGAAGGGGCAGCCCTGAAATCGAAAGGCTCGCTCTTCAGGGAAGCTGCCTTATATTCTCCCCATGCCCTGGACACTTTCTTTTCTGTATTTAATACCGTGTTTTCAGCATCTAAGATATAATGAGCTTCCTACAACAGTTGAGTAGGATCACATGCTTTGTTAAGGTAAACCTATGGAGTGCCCTTAGTGTTGCTGTGCTGTTTTCTGTAAACTTGGAAAAAAAATGCAAATCTCTGATGGAGTTACTAACCACCTTAGAAACACATAGAGCAAAGTTATGTTGTCTAAAGGAAAATAGTTTATGCTTGACTAGGCGTTTAATTTTAAATATTCTGTTCATTATTAGGGCCTTTATAGAATGTTTGGTAAATACTGAAGAGTTGAAAGAATAAATGAACATTGTTCGTAACTTCACTTCTTTTCATTTGAATACTTACTACAGTCAGATATATTTGCGGGTGTGTCTCTGAATAGCTTTGTGTCTTTTTTTCTTTTAAGATTATATTATAAGCGTTTTATGTCATCTAATGTTTGAAAGCATTATTATTTTTTTGCGGCACAGTCTTGCTATGTTGCCCAAGCTGATCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCCGGTGGCTGAGAGTACAGGCACGTGGAAAGCATGATTTTTTTTTTTTCTTCCTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTACAGCATGGCTCATGGCAGCCTCAACCTCCCAGGGTCAAGCTATCCTCCCACGTCAGCCTCCTGAGTGGCTGGACCATGAGCACATGCCACCACGCCCAGCTATTTTGTTGTTGTTGTTGTTGTTGTAGAGATGGGGTGTGGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACCCCTGGCCTCAAGTGATCTCCTGCCTTGGCCTCCCATAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCTGAAAGCATGATTTTCTTTTCTCTTTTTTTCAGAGTCTAGCCCTGTAGCTCAGGCTGGAGTGCAGTGGTGCTTTCCTGGCTCTCTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCGAGTCTTAGCCACTCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTGTATTTTTTTTTTAAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCGAACTTGGCCTCAAGTAATCCGCCTGCCTTGGCCACCCAAAATGCTGAGATTACAGGTACGAGCCACCACACCCAGCCTTAAGCATGATTTTTTAAATCAACTTTGGTATGGTATAATTTGCTTACAATAAAATTAATCAATTTTGCTAAGTTTTGACAAAAATCCCAATCATAATAAAGAACACTTCCATCATCCCAAAAGTTCCTTTGTGTCTCTTCCCCCACTTCTGGCAACCATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAAAATATATCCCTTTGGTTGAACTTTGGGTTATTTCCTTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACATTGTTGTATGTCTGTTTCTATAGGATAAATTCTTAGAAGTGAAACCATGGATCACATAACAGGAATCTTTAGACAGTTTTAAAAATATTCTTGGCCGGGTACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTGGCTGGGGATGGTGGCGGGCACCTGGAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAATCCAGAAGGTGGAGGTTGCAGTGAGTCGAGATTGCGCCACTGAACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAAACAAAACAAAACAAAAAACCCATGGGAGGCTGGCACATTGGCTCACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAATTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAAACGGGGGTTCACCATGTTAGCCAGGATGGTCTCAATCTCTCGACCTTGTGATCCGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTCACTTCTGTATGTACGTCAAGACATACAACAGTGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAATAACCCAAAGTTCAACCAAAGGGTTATATTCTATAGAATAACTATTATTACACCCCCTGAAAAAGCATGCTTTTAGCAGATCGATAGTTGCAAGAAGTGGGGGAAGAGACTCACCACAAAGGGCACAAAGGAACTTTTGGGGTGATGGACATGTTCTTTATTATGATCGGGACTTTTGTCAAAACTTAGCAAGATTGACTAATTTTATTGTAAGCAAATTATGCCATACTAACACGTTGATTTAAAAAATCATGCCTTCAGCTGGGCATGGTCATGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCATTTGAGGCCAGTAAGTTCGAGACCAGCATGAGCAACAAAGTGAGACCCCATTTCTGTAAGAATATTAGCCAGGCACGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGTGGCAGGAGGATCCCTGAGCCTAGGAGTTGGAGGTAGCAGTGAGCCACGATCATGCCACTGTCCTCCAGCCTGGGTGATAGAGTGAGACCCCATCTCAAGAAAAAAAAAAAAAGAAAAAAATTCTCATGGACTTTCTTTAGTTTGTCTTTTTATACTCTGTTTCTGGTCCAGGGATGGATTTGACACCTGAGGCCTTGATAGGAGACCTTAAGTCAGCCTCAGCTGCTTGGCAGTCTCCAGGTCTCCCTATTTTTTGATGACCTTTGTTCCAAAGGACATTTTTCCCTGCCTGCTGCTCTGCTGCATAGCTTATGTTTCATTTTTCCATTTTGAGGCTACACCTAGTCTTTTGTTGAGGAAATATTTGTTTCAGATTAGCTTGTAAACTTGATATAACCATTTTAAACAGGGAAGGTATAGGATTGTAAAATGAATGGCTATTTCTTTATGTACTAGAATTGTTTCAGACTTGGGCTGGCATGGTCCCGCTTGTTCTTTGCTATCAGAGTTCCGTGGCTGGCACTGAGTTGACACTCTGAAGTATTTAATTCAGTTGATTACAGTTTGCATTTCTTGACTTTCATTGCATTTTACAG
Seq C2 exon
GTGGAAGAGATTAGAAACTCATGATGTTGTGATCGAGTGTGCCAAAATCTCTCTGGATCCCACAGAAGCCTCATATGAAGATGGCTATTCTGTGTCTCACCAAATCTCAGCCCGCTTTCCTCATCGTTCAGCCGATGTCACCACCAGCCCTTATGCTGACACACAGAATAGCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.120 A=NA C2=0.265
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(3.3=100)
A:
NA
C2:
PF043887=Hamartin=FE(17.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains