HsaINT0015731 @ hg19
Intron Retention
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:10548]
Coordinates
chr6:16753464-16761721:-
Coord C1 exon
chr6:16761529-16761721
Coord A exon
chr6:16753579-16761528
Coord C2 exon
chr6:16753464-16753578
Length
7950 bp
Sequences
Splice sites
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
3' ss Seq
CACTCCCTCGACCATTGCAGGAG
3' ss Score
7
Exon sequences
Seq C1 exon
GAGGAGAGAGCAGAGTATACCGCAGACATCATTTCTACTACAGTGGCGGAGCCGTACAGGACCTGTTTCACTGCAGGGGGATCCAAAACAAGCCCCGTGGAGCAGCAGCCAGAGCAACAGCAGCCGCAAGACATTGTTTCTCTCCCTCTGCCCCCCCTTCCCCACGCAACCCCAGATCCATTTACACTTTACA
Seq A exon
GTAAGTGACTATTTTTTTTTCCTCCTCCGATTCTTTCCCCCCTCCCCCATTCCCTTCTCCCCTTATTTAGATTAAAATCCCTCCTCCCCCGATCTCCCGAGAGGGGCAAAAGCAACAACCAGCAAACAAACCCAAAACCCCAATCGGCTGCACGGAAAACAGCTGGAAGAGGAGCGAAGGAAATCGACGCGTCGTGTTCTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTATGTGTGTACATACAACCGTCCCCGGCTCCAGGCTCCCGGGCCGACACCCCCACTCTGGGCGCAGGGGCGGCCGGCGGGGGGGCTGTCAGGGGCTGGGTGGGCGCCCGCCGGGCTAGGGGGCGCGCCCGGGCGGGGGGCGCGGGCGGGGAGAGCGGCGGCGGCGCCCCGCTCCCCCGGCTGCTGGTCCGGTCGCAAGTGCGGAGAGCCATGTCCTCCTCCCTCCGGGTGGCGCAGGGGGGAGGCGGCGGCTGGGGTTGGGGGGTGGTCCCTTTCCCGGCCGCCCTCTTCCCATTCCTCCTCCCCGGAGAGGGCGGTGAGAGAGAGGGGGTCTCACGGAGGGCTGGACTTCTCCGCGGGTGGTCGCCCGGCCTCGGCGCCCTGGGGCGGGGGTCTCCCCTCGGAGGGCCGGCCTCGCCGGGTGTGCGGCTGCGGGCGGGGAAGGGACTGCTCCTGCAGCCGGGACGGGACTTTGCGCGCGGCCGGGTGCCGGGCGGGGGGCGCAGAGGGGTGGCCTCGGGGACCGCGCGGGGGTAGCGGGTGTGCGGGTGCCTGGAGCGCGGCTGGAGTGGCGGTGACGGCCCTGGCCGCCGCCGCCACCGCCGCCCTGTTGGTGCGGCCGCTTCCTGATCATGTGCAGCGGCAGCCGCCGCCCGGAGCCGGGAGCCCGCGAGCGCCCCAGTCCGGGCCGGCGCCCCCGCCAGCACCCGCGGCAGGAGACGAGGAGCCGCGGCAGGCGCTGCCCTGAGCCGGGAGTGAACGGCTGCGCGGCTGCTGGGAGGGTGAATGAAGCCAGGAGGAGGGGAAGGAGGAGGAGGCGGCGGCCGCCGCGGAGGAGGCGCTGCGGGGATTGGGATGCGCCCTGGAGCCCCACTGCTCGTTCACTCTGGGCCGGGCCGGAGACTCTGCCACTCCCGGGGGCGCCGCCGCCTCCTCCTACGTGGTTCCAGTGCTGCGCGCAGGCCGGTCCCGCAGGGGGCAGGGAAGGGGGCCGGACGGGCGGAGCGAGAGGTGAGGCGGTGTCGGAGCGCGGCGTGAGTGTGAGTGAGTGTGTGAGTGACTGTGTGTGTGTATTTGTGCGCGCGCGCGCCGGGCGGGGGGCGAGGGCCGTCGCGACGCGGAGGGGGCCCTTCCTTGGCTACTTGGCTGACTCTGCAGCGCCCCGACCCCTCTTCAGCCCCCCGCCTTCAGGCTGCCTTCTTAAACTCCGTGGCTTGTGCTTTCATTTTGTTTCAGACCACGTAGGGGGCTGACTGAAAGGGATGAAACAATTCAGGTTTTCTAGGGAGATTGAGCAAGAACCTTAGTGGGGGTGGAAGTAGGGTGGTGATCGAGACTCTGCCAGAAAACAAAACAAAACAAAAAAAAATCCGTTTCTAAGGACGGCGGGGATTCGGTTCGAGCCCGTGGCTGCTCTGTTTTGTTTTGCTTTCTTGGTATATAATCCTACAGATAAAAGGGTAATATAAATATTTGAGAAGAGGGAAATTGCTGAAGAGTAGTAAGGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTCGGAAGAAGCTGGTTATATAATGCGCGATGTGGCTAACAAGAAAGGCAAGCTATTTTTATTTTGTTTACCGTATGCTGTGCAGTAGGGACTCCTCCAAACTGGTTCTGTCCCCGAAGAGATTCTTAGCTTCCCTGCGAGATCCACAGGATACAATTAGCAAAATTAGAAGACCCTATTACACCCACAGAATAAAAACTAATGCCTTACAGTGGCTTTCTCCCTGCACATCCTGTCGTGCATGCACGGGAATGTGTGTATGCAAATAAGTTCTCCTTTGGCAATCTAGTAGTCACATCTCAATGACATTTGTGTTTTATAATGCAGGCTGTTTTTAATATTTAAACATCATTGTTATATATTGCACACAGCAGTGGGTAGTTACTTGGTTATTTTTAGGCACAGCTAGTTACTTTTTCAACAGTGTTAGCTGAGACATTTCTGTTTGGGTTTTTTAGGAGGCTGCAGTTCCTAGAAGCCCCCCTTAAGCCCACCCTTCGGTTTATTTGATGGGTAAAGGTAGTTTGATACTTGAGCTTTTTTTGGAGTGAAGCTTATGTCTGAGGAAACCACCAGAGAGAAGAGAAAATCCTGCACAGGAACTCTTGGAAAGGGATTGCACCATAACGGCTAGCGCTGTGGCATTTAATCTCCTCTGATTGCCCTCTCACTGTGCATGCATCAGTCAATATTTTAGCAGCTCCGCAAATAAATGGACTTGAATGCCATCTTCTACATAAAGCAGAGGTTGAAGGGCTCCCCTGAACCTCCTGGCTGCCTGTCAGTGGTGTAGGTTTTCGGTGCACTTACTCCAGTCCTGATCACTCATGTAATTAGATCAGGCTGCCATGGCAACAGACAGTGTTCCTCGTCCATTCAGGTGGGTTTGTCTTGTGCCTGAACTACTCCAAGTGTTTTATGCACAGCATTTATGCTGCCCAAGCCAGACGAGAGACTCCACTATTTCAATTGCATCTTCTTTCAGTCATTTGGATGGGAGACACTGAATGAGGCTTCTAGCTACTCAACTTTTATAAAGGAGACCAACAAGCTGTTCTTCCTAGGTGCAGTATGTAAATGCATCTCCCCAGACAGTGAAAGGAGCCTGACAATCCTGCTGGTGTTTATTGTGAACAGATCAACAAGTATTTGGTACTTGTTAGAAACCTTTCAGAGCTCACTAAAGCAACATTTCTTTTGCAGTCTGGTGCCTTTGGCCTTGCAGTCAGTCACTTAACCCTTTCAAGTGTGAAGAGCGTTCATCATTTGGAACCTCCATTGCCCATAGCGATGGCTGGATTTCTAAAGGGTTTACTCAGGGGAATAACTTATTCGGAAAATATATTCCCATTGTCACATTTTAAAACTTGACAGCCATCATAACAAAAACTGGTACTGACAGTAGGCAGACATTCTGAATGTATTCATTCTTAATTTGGATCTATTGGCTGTGATTTGAATGATCTTTGGTAGTAAGTTAAAAGGATTTTTTTTTCCTTAGCTAAGCGAGAAACGATAGAGGCCTATAGCTAGAGGACTGATAGTGCATGGTGCTTTTGGACAATAAACATGTACTTTATTTTAGGATGTAATTTAGTGAGCAGTTAGAAAGCAGTATTCTAGTCTTTGCATTAGGGCACCACTGATAAAGCTGGCTAAGCAAAGAGAAATAATATTATGGCAAAAAGGAAAAAAGGAAAAGTTGCTTTAGTTGCTGAAGCTCTGTGCTGCTCAGGCAATCCAACTAAGTGGGGCAGGGGGCGGGCGGGGGGGAGTATTTTCATAACCCTGGTATTTGAAAGAAAAGATAATTGAGAATTATGTCTTGATTTAGTTGTGACTGCCAGTCAGTTTACAATTTTATGGCCAACAAAGCTAAACTGGTAAATTTTTTCCCCCAGGGCTAGGATTGAGAGAGCTACTCAACTCTATTCCCAGGGGGTTTATGAGTTTTTACCGTTTTGTGAGTTTATGTGGTTGGTAAATTCATTGTGGCCTGGTCAGATGAAGCACTGCTGTAGTTAAAATGAGCTATTATTTCTTCTAGCTACTCAACTTTTATAAGGTGGTAAATAGATGGGAAGCAAGGATGTCAATATTACACAATGCCTTGGAGGTCCTGGATTCTATTTTGCAACATATAGAAAAATGCTTTACTTGCAGTAAAATGTGAACATATATTTTTCAGTGCACAAATAAATTCATGTGAAAATAAGTATAAAAAAATGTACCTGGTGGGAACCGCCAAAGGCAATATTTTTCCTTGCGGATTTCGTTTTAAGAGGGTTTGGTAAACAGAAGTGACACTTTGTCAAAAATGTTACGACTAGACTTCAGGACTTCTGAATTGTCTTTTACACTTAGAGGAAGATTAAACAGAAACTCTTTAGCCACAAGATTACATGTCAAATGCCTGTAAGTTTCAACATACCTAAGTCAGTTGCCTAGGAGTCCTGGGAAAGGCCAGTGCTGAGATTATTGAAATATTAGTAAACATTACTATGACTCCTGTTTTTGTTGTCATTATGGAGTCCAAGGACGCACATTTCTTTGAATAATGTTGTGCCTTTATTGTTTTTCATTCTGAAATGTCAAGTGGATTTTACTTTTTTGCACATACCTTGAGTGACAGTTTCTGATGACTAACACTAACACTCATTTTGTTTCCTATTAAAAGTTAAGCAATAAACATATTTTACTAAAATTCTGAAACTCACGTAAGTAGGTAAATGTGGGAGTGAATGTTAATTCTTTAAACTGTAGTTATCTGAAAATAACACATAGATTAGGATCTGAACAGCTTAAATACTTGCATCGGTAAAGTGACAATAGTGAAGTAAGACAGGCTATTATTTTTAGGGGAGAGATAGATTATTTGACTTTCCTTGCTCTGTATTTTCAGAGTAATTCAATAGTTCGAATGATTAGTTTCTGTGAGAGATTTAGATCTGTGCAGCTTAATTGCTTCAAATAACAGATTTAGTTCTGGTCATACTTCCAAGGTTATCAGAAGCAGGCCCTCCTTATTTTGATAAAAGCATTGAAAGCAATACATTGTAGAAATGGTAATAGAAATAATAATTTCTGTTTTAGGACCTTACATATAGAACTTCCTTTTCTAAGATAAGAATTTTAAGTCATCAATTATGTTCACATTTTATTTTCATGTAATTTAGTTTAATAAAATAAATGTACTCATTCAAAATTTTTTTAAGAAGTGATATACAGTGTCAGTTTTACAGAATTTTTTAAATGTTGGCTGAAAGAACGGTAATTACATTGAGATTTTTAAAAATATATAAATGCTTAAAATTACAGAAGTAATAAAAAGAATGGTTTTAGACAAATCTTATGGAAAGTTTTTTATTTTATTCTTTTATAATTATATTTATGGATATTTGTCTTTATTAGTGTAGTAATATATTTTATAACGCTCATAATTTGAACTTTCAGGCTAATGTACTATAAATATTTGTATTACGCATTACTACCATCCCAAATGTACCAAAACACGTTTAGAGAGAACAATTATGGACAAAAAAGCAACAAGCATTATATTTTGTTTGACATATTTCATGTTAGCAGAAATGTTTCATTGATTTTTCTGTAACTTTTAATGCATCCCATTTGTGGAGTAATGAAAATGTAATGATAATTGCCACAATGTAAGCAAAAATTGTATCCTACCTGAAAATTACTTTCCAGAAAATTCATGGTAGTGTACTCAGAATTTGAGACTCAAGAGGGCAGAGGTTTCCCCGATTGTGATGTTTTGATTTGGGCTAAGAGGAACTCTTTTTTTTTTTTTTTACACTTAGGTGCCCTTTAACATGACAAGTTTTGAATGAGTTAGGTAGCAGAAGTTTTTCGTGACAGTTATTGTAGCTACTAACCTATAGCATCTATCCTTCTAACGTTCAAAGAAAATATATTTTTCTGTCACTGTGTATGGCAAACTTTATTTTCTTGTGCCCTTAATTTTGTTCCCCTTTCTCACATTATCTCCTGGTACTTACTGACCATTACCTCAGTTTTGTTTAGGCCGTCTTTCTTGTTAATCTTCCAATATTAATAGTATTGTATTATGTTGCTCTGCTGGGTTTTAAAAATATTGAGTATTCCATTTTTGGTGTATATTATTGTATAAAATGTCCTATAAATTATTTTCTGGTATATTATTTTGTAAGTTTTTGCAGTGAATACGTGCTGCCTTGCTTGTATTCTTGCCTTCTTCCCTCTGATGGAATACAAGTTATGTAAACTCTCTGTATTATCCTAACTAGTGCAGCAACACAAATACTTTTGAAATAAGAAAGCATACTCATGCAAGAGTAAAGTAATCTTCTATGGCATTTACATCATGTTTGACCCTCCTCTGCACTTCAGCAAACTAGGAGGAGGTTGTAACTTGGACTCTATAAAACCTTATCTGCCAGGTGATATGTAAACAGGATTGTGTGCACACACATTGTCATATAGGCAAACACTCTCCCAACTGGTGAGCTCATAAAAAGCACTGTCTGTAAATTTATGGTACCTGCACCTCATTTGAGAATCAAGTATTTTGATGCTTAATTTGAGATGACATCATGATCCTCCCTCCCTGCTTCCTCATCCTTAAAGAAGTACTAAGATTAAATAGAATTTTGTCAACTTCTACTTAACTTGGCCATTATTTATATTTGTAACTCAACAGGCTTCTTGGTGGAGGGACTGTGCCTTCTAAAGATCTGAAAGACCTTATAGTGTATAACAGCTTACCTTCCTTCTCTGTACGCACAGATCACATGTGGGGAAACCAAGGACTACAAGAATTCCTTCTTTTGCATATCAGTCCTCGGCAGGCAATCAATGCTTAAATAAATGCTTGGTGAATGGATTAGTTAGAAGTAAGAACATTTTGGCTACTGTTCATTACTTTGAAAAGTGCTGGAAAGAAGTGGAAGTTATTTTCCTTTCCAGCTGGGCTGTGCTCTTAAAAATAGTGAGTGTGTATGGATGAAAATAATCATGAGTACCGAGATGTGTTGCCATGTACCCAAGGATAATTGGCTCACTTACCTGTTTACGGATTATTCACATTGGAGATCATATTCATAGCTCCAGAATAGTTTCTTTCTGACATCCAATATAAACCTGGGCCTCCTTCTTCCTACTGTTACCTGGCGTGAGCTTAGGAAACCCAAACTAAGTTTAAAATCAGCCTAAGCAAATGTGCAGATCAGCTCCAGTAATCAAAGACTGAAAATCAGTCCAGCATTCACTAGTTTGGGGATGATTTTATAGTAACCCTGCTACTGATTTTAAAAAAATTTTTTTTTCTGTTTAATGTGGATAATTGGTAATTACCGGTATTTAAGAATATAATTTTAATGGATAGGGCTAAAAAAATACGTTAGCAGATCGAGTCCTCAACTTCTTCCGTTTCTATGCATAGGTTTTACCTCACAAAAACTACTACAAGCACCAAGCTCCCTGATGGAAAGGTATATGGAAGATTCATTCATTCTTTCTTTCATTCATCCATTCACACATTCACTCATTCATCATACAATGGAAAATTTTTACTTAACCATGTGCAAGGAATTGTGGCAAAATGAAAATGAGATGTACATTCAGTATTTAAATAAAGTTTAGTGGAAAGTTTAGTGAATATAAATGCACACTTTACACTTTTTTTCTGCATTTTTTCCTTTCTTCTATTCCATTGGACTGGTATGCTAATAGCTGTGCACTTTCATCATTGTGTTTCAAGTTGCATGTTGATAGATAATATATGCCACATTAAAATTAGGCTTTGGCTCAATTACTATTCAATCCATGCCCATTTTCACCTGATACTCCTTGTAGTTACCAGCATGTGTTTATCAGATGATTGGCTAGAATCATTGGAGAAAAGAATGACAGCGGCTGGCTCAAATGGGGAGACCATCCTCTTAATTTGATGGAAGGGATGACCTTTTTGTATGTTGGCCTCCCTCTGAGCCTTGTTGAGTAAAACCAGACCTGCCTTTTGAGCTGGCTGGGATCTGTGTAATTCTCATACAACAGAATGCCGAATGTGATGTTCTTAAAATTTGTATTTCGGTGCATAGACACTTAAGGTGGACTTATTTTTTAAAGCAGTCTATTCTGTTTTTCATTTTGGATTTCCTCTCCTGCACTCCCTCGACCATTGCAG
Seq C2 exon
GAGCATCGTGCATCAAGTCACCAGGGTGGTCCATTCAAGCTGCAGATTTGTTTGTCATCCTTGTACAGCAATCTCCTCCTCCACTGCCACTACAGGGAAGTGCATCACATGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124788-ATXN1:NM_001128164:1
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=NA A=NA C2=NA
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NA
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)