Special

HsaINT0015752 @ hg38

Intron Retention

Gene
ENSG00000224470 | ATXN1L
Description
ataxin 1 like [Source:HGNC Symbol;Acc:HGNC:33279]
Coordinates
chr16:71848010-71857333:+
Coord C1 exon
chr16:71848010-71848071
Coord A exon
chr16:71848072-71849623
Coord C2 exon
chr16:71849624-71857333
Length
1552 bp
Sequences
Splice sites
5' ss Seq
CAGGTAATA
5' ss Score
8.55
3' ss Seq
TCTGATTTGTTCCCTAATAGATG
3' ss Score
7.99
Exon sequences
Seq C1 exon
GCTCCCGAGCCAGCCGGGAGGACACTTACTACAGCTGCTCAGAAGCACCACTGGAAACTCAG
Seq A exon
GTAATACCGGCACTTTGAATTCCTTGTTTCAGGAAAATATCTGGGATGTCACAGTGGAAAAACAGAACAGAATGTAATATAGAAAGCTCTTTTCAGATCCAAAGAACTGGAACCTGGTTGGAAGAAATAGGCAGCAAAGTTCATGTGCACTGAAGTGTTCAGACCAAAAAGTTGCTTTATAACAATGGACAAAAGCATTTGTGAAAGGTGACAATAAGAGAAAAGGGAAAGAGAACTTTCTTATGAATCATACAGATACGGGGAAAAAAACAGGCATGTTTAGAGGAATGGAACCAGAATTTCATGGAGTGGTGCCTGGAGCAGACCTACAGTGGAGAAGGAGCTATTGGTAAAAGAAAGCACAAAGAAAAAAGAAAGGGAATGAATAGAGAAGGCAAATTGAAGGTGATCATTGAGAAGAAGCCTTTTGAGACTAGGGAACCGGAAGTGTACGTAAGGTCAGAAGAATTTAGAATTTTGTTGTTCTTTGGTGAAGAGGAGAAACAAGTTGACAGCAAACTAGTTTAATCACTTTCACTATATAGAGGCTGAGTTAAAATGTATTATTTCATGGGTCAAAGATGTTAATTTTCATAACCTGGTTAGGGAGCAAAGTCTTAAAAAAAAAAACAAAACACGAGCAGACCTGAGGGTTTTGGCACCTAGGTCCTTGAGGTACTGATGAGATGAGGCAAAGGAGGAAGAGAGTTTTTAGCCAGGCTTGGGATAGCAGTAGGTGAGATCATAACCCAAATTAGGCTACAGAAAGGAAGCAAGGATGAGGTCATATGTTCAGGAAAGAAGGTGGCACATTCATGTTTGGTAGCAAAAGGAGAAACTTAAGAAAAAGAGCCAGCAGGAGGCTGGGCGCTGTGGCTCACACCCGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCCAAGGGCAGGCGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGTTAGCCAGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGAGGTTGCGGTGAGCTGAGATTGCACCATGTACTGTGGCCAGGGCAACAAGAGCAAAACTCCATGTGTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAGAGCCAGCAGGAAAGACCATGTGTTCAAAGCCCCCTTTGGGAAGAAGGCAGAAAAGAGACAAGGTGCTTATGAGACACATGACTAACCGTGAAGCTGTTGGTCTCCCTGGGCTTGTGGAGCCCACAGGTTATTTGTGCATTGGTGAATGCGTGTCCCTGTAGCTCTTTGTGCCTTGTGATTTCCCCGACTGTTTCTCTCATGTCCCAGGCTGGATGAGTTGGGGGTAGCCTCCTTGTCTGCCCCTTTCTCTTTCCTCCTTATTTTCTAACAGTCCCCTTTGTTACATCTTCCTCCATGGCACAGTTCTTTCTATTTCCTTTGTCTTGGCTCATCCCTAGGTTACTTTTCTTTGCCTCTGATTTGTTCCCTAATAG
Seq C2 exon
ATGTGGGCGCCCCAGCCAGAAGCAGAGAGGGGTACAGGGAAGCTACAGAGAAGCCCCTTCTGATGCCCCAGGGAGCAAGTCGACTCCTTCCAGGCTCCAGGAACACCACAAAGCAATATGAAACCTGTTCATGAAAGGAGTCAGGAATGCCTTCCACCAAAGAAACGAGACCTCCCCGTGACCAGCGAGGATATGGGGAGAACTACCAGCTGCTCCACTAACCACACACCCTCCAGTGATGCTTCTGAATGGTCCCGAGGGGTTGTGGTGGCTGGGCAGAGCCAGGCAGGAGCCAGAGTCAGCCTGGGGGGTGATGGAGCTGAGGCCATCACCGGTCTGACAGTGGACCAGTATGGCATGCTGTATAAGGTGGCTGTGCCGCCTGCCACCTTTTCACCAACTGGACTCCCATCTGTGGTGAATATGAGTCCCTTGCCCCCAACGTTTAATGTAGCGTCTTCACTAATTCAACATCCAGGCATCCACTATCCTCCACTCCACTATGCTCAGCTCCCATCCACCTCGCTGCAGTTCATTGGGTCTCCTTATAGCCTTCCCTATGCTGTGCCACCTAATTTCCTACCGAGTCCCCTCCTATCTCCTTCTGCCAACCTTGCCACCTCTCACCTTCCACACTTTGTGCCATATGCCTCACTTCTGGCTGAAGGAGCCACTCCTCCCCCACAGGCTCCCTCCCCGGCCCACTCATTTAACAAAGCTCCCTCTGCCACCTCCCCATCTGGGCAATTGCCACATCATTCAAGTACTCAGCCGCTGGACCTTGCTCCAGGTCGGATGCCCATTTATTATCAGATGTCCAGGCTACCTGCTGGGTATACTTTGCATGAAACCCCTCCAGCAGGTGCCAGCCCAGTTCTTACCCCTCAGGAGAGCCAGTCTGCTCTGGAAGCAGCTGCTGCAAATGGAGGACAGAGACCACGAGAGCGAAATTTAGTAAGACGGGAAAGTGAAGCCCTTGACTCCCCCAACAGCAAGGGTGAAGGCCAGGGACTGGTGCCAGTGGTAGAATGTGTGGTGGATGGACAGTTGTTTTCAGGTTCTCAGACTCCACGGGTAGAGGTAGCAGCACCAGCACACCGGGGGACCCCGGACACTGACCTTGAGGTCCAGCGGGTGGTTGGCGCTTTAGCTTCTCAGGACTATCGTGTGGTGGCAGCTCAGAGGAAGGAGGAACCCAGCCCCCTCAACCTATCCCATCATACCCCCGACCATCAGGGTGAGGGGCGAGGGTCAGCCAGGAACCCTGCAGAGCTGGCAGAGAAAAGTCAGGCCCGTGGGTTCTACCCTCAGTCCCATCAGGAACCAGTAAAACATAGACCTTTACCCAAAGCAATGGTTGTAGCCAATGGCAACCTGGTGCCCACTGGAACTGACTCAGGCCTGCTGCCTGTGGGCTCGGAGATCCTGGTAGCATCAAGTCTGGACGTGCAGGCCAGAGCCACCTTCCCAGACAAGGAGCCAACGCCGCCCCCCATTACCTCCTCTCACTTGCCTTCCCATTTCATGAAAGGCGCCATCATCCAGCTGGCTACGGGAGAGCTGAAGCGGGTGGAGGACCTCCAGACCCAGGATTTTGTGCGCAGTGCCGAAGTGAGCGGGGGGCTGAAGATTGACTCTAGCACGGTCGTGGACATTCAGGAGAGCCAATGGCCTGGATTTGTCATGCTGCATTTTGTGGTTGGTGAGCAGCAGAGCAAAGTGAGCATCGAAGTGCCCCCCGAGCACCCCTTCTTTGTATATGGCCAGGGTTGGTCCTCTTGCAGCCCTGGGCGGACGACACAACTCTTCTCTCTGCCCTGCCATCGGCTACAGGTGGGAGATGTCTGCATCTCTATCAGTTTACAGAGCTTGAACAGTAACTCAGTTTCTCAGGCCAGCTGTGCTCCCCCAAGCCAGCTGGGTCCCCCCCGAGAAAGGCCTGAGAGGACGGTCTTGGGATCCAGAGAGCTATGTGACAGTGAGGGGAAGAGCCAGCCGGCAGGAGAGGGCTCCCGTGTGGTAGAGCCTTCCCAGCCTGAGTCCGGTGCTCAGGCCTGCTGGCCAGCCCCGAGCTTCCAAAGATACAGCATGCAAGGGGAGGAGGCACGGGCTGCGCTGCTCCGTCCCTCTTTCATTCCACAGGAGGTAAAGCTGTCCATTGAAGGGCGTTCCAATGCGGGAAAATGAACCTCTTCCCCAGACCAGGACTGGGGCTTTACCCCAGAGCCTCGCCTCGCCGCCGTGAGCAGGCAGAGGATTTGCACACGCCGAGCAGGGAATGGCTTTCTTGGCAGTGAGATTTGGGGGAAAGGGGAGGCATGAAGTCAGCCTCCCAAGGCAGGATCTGTTGTTCATTACCCCATGGCATCCTTTCAGGACAACCCCAGAGGGTGTTGTGATGGGGAGCAGCAGGCCTGGGGCAAGGAAGGAAGGGGGTGCACACAGGAGAAGAAACATTCCAAAATCAGGGCCTCCCTGTTCTTTCCTCCCCATCCCTAGCTCCTGCAAGAGAAAGTCCAGGCTTTGGGAGCAGATGGCAGAGGGAGGGAGTAAAGAAAGAGCCAAAAATGATGATCCACAGCTTATAGTAGCAGTTAAACTGTCAGAAGTTTTTTTTCTTTTTTGTGGTAGAAGGGCAGGAGGCCCCAAGGTTGGAAATAAGAGGGTTCCCACCCAGAACCCTTCTTGTGAGAGATGCGCACTTTAAAGGGTGATTTTGTTCCAGATGTCTATGGCTGGGTGTGTGGGGGAGGAGCACTCTCATCTGCAGGACTCTGCTTGATCCTCTGCTTCATAGCCCTTCCCCATCTCTCCTCACCATTCTGCCTACAAGGCTTCTAGCAGCACGGGGGCCCGGAGGGAGAGCCCCTTCAGGGTTCAGAGTGAAGTACTACCTTGCCAGGGACTCAGTCAGGGGACTTTGGGAGAAAGACTTGATAGCCAGGCTGACTGGGTTCTAGGCAGGCCCTCTGGAAAGGTAGCTCACCTAACAAAGCTCCTCCATCTCAGCATGCCAGACCCACTTTGAAATCTCACAGAATCTTGCTGGTAATGGTGACTTTAGAACTAGTAGACCCTTTTTCCCAGGCACTGACCCCCCACCTTTGTCTGTGTTGTGCCCAAGTGCCTGCGCCACCCCCACCCTCCTGCTGCGCTGACCGCTGCATGGTGTCGTGACCTGGGCCTCATTTGTAGCTGCACTGCCTTTCCTTGTCTGCAAAGTTGGTTTTGTCCACTCTGACCAAGACCTCTAGTTTTTGGTGGGTAGGGGGTCTCTCTGGTTTCCCCTTCAGCTATAATCTCTATTTTTAAAATCTCAAAATCATGTCCCCTCCACTTCCACTGCCAAACAGCTTGGTGAAGAAACAAGAAGGGAACTATGCCCTGGGCCAGGGCGAATGCGTGGCTGGGCAGTGCCCATCATGGCATTTTCACATGTCCCATATGCCCCTCCTGTCTTATTCCACTGCTTCTCCCAGCATTCTGGTGCCTCCAAGCCATCCCCTCCCACCACCAGCTCTAAGATTCTAGGATAGTCTTGATAACATTTCAGTACCTGAATAGATGTCATTTTGTGTTGGTATATTCCTCTGCAAAAAGTATTTTCAATCTTGGTTGCATTGGCACCCCCCCTACCCCCCACCAATGTCTTAATCCCACATTTTCTTCACAACTTTTAGCATCAGCTCAGACCGTGGGGTTCCACTGGGTATTGGGAATTAGGCTCCCCCACTAGCTTTCAGGTGGGTAAGTTTTTTTGTTTGTTTTTTGGGGGTCTTTAGACTCTTGAAGGCAACTCAGGGTATTGTCCACGCAGCTCTCTGGTTAGACTTCTCCCAGGCTATGATCCTGGCATGTCCTTTATAAGGTATACTTGGATTGGCCGAGACCTGGCCTGGCATCAGGAGTCCAAACCTCTGAGGTCTGATCTCTGCTCTGTCAAGGACTTTCGGCAAGTCTCGTGACCTCTGGCTCTTTCACTTCCTCCCCACCTGCCAAATGGGGATAAATAATCTTACCTACCTCCTGGGGGGAGGGGAAGTTCTGAGAATGGAGTCATTCTTAGTGTTCAGGTGCTAAAGGTTGTTCTCCTGGGGGAACAGAGTGACTGAAACTGGCTTGTTTGCTACAAGCCCTACCCTCCACTCTTTCATTCCTTGAAAGCAGTTTGCCTGGTCAGTCAGCTTTTGGGGGTCCATCAAAGGAGGTTGCTGACCTGACCGTGAGTGCTTCAGTATCTGGTTTGTGTCAGAACCAGACGCCAACTTTGTACTGCATTTGGGATCATATCTTTCCCCTTCTCTGTCCCCCATTCTCTGAATGCTGCTTTCTCTGGCTTGTTTCCTACAGTGGGGGCCTGTGGGGTTGAGTCTTGAGGAATCCCCTCAAATGAGAAGGCCTTGGGAGAAGGCCTCATCTCTGGCTGTTTCATGAGCAACTCATTCCTAGAGTTCATTGTTTGCATGGGTTTCTCACAAGCGTCCTTCCTCATAGGAAGGCTCATCAACTGAATTTAGTGACATGTACACAGTAGATGCTCAAGCAGTGTCTGCAAGGACACAAGCTGAGCTTTCTCCTTATGGGGCAAACCTATGTCTAACCAGATACAGACCAATTAGTTTAGATCAAATCACCTTCCACTTGGGCTACTTGTGACTTTCCAACCTGGTAACTTCCACTGAATTCTGGAAAGAGAAATTCTTGAGGACCCTGGCAAGTTGGGCCCTGACCTTTCTGTTGCTGTCTCTTGCTGGTGAAGCAATACCAGCAGTTCCTGTAATACCACAATATCGTTCCATGCATATATAACATATTAATACTTGATTTTGCTGAGCTGCAAAGGTATCTGTCATAAAATATGGTCCCCAGGAAAAGAATCTCTGTGCTCTAAATCTCGGTCAGAGCTGTGGCCTCCCCCTTGCCTTTAACCTCTAGTTTAGTCTTTTCCTCCAGGCATGAAAAATATGACTAACCTGTGGTGTGTCCATTCTTCCTTATAGGAATTTCCTGAGTTTGCAGGAGACATGAGAGCAGTTTTTAGCGAGTATTTTAGTGGGAAGTTGCCAACTTTTTAAGAATGAGCAGTTGACAAGGGCCAGAGCCTGTCCCTTGTCAGCAGTAGGACATTTCCAGCTCTTAGGAATAGAAAGGAGGACTGCTGACTGTCTGGCGCTGTATAAAAATGTGTATACCAATTTGGGAATAGGGGAACCCAGTCATGGATGGATAATAAGCCAAGTCTTGAATCATTCCTATCAAGATTAGTATACATGAGGAAGAGGTGGCATGGGGGGAAGGGGCTCTGGGAGTTCAGAGCTGAGTACTTGTACCTGAGGGAGGGCCCCCAGCCAATCTGGGCTGGTCCTTCTATATTCTTGGTCCCAGTTGGTCATAACACCAAGGGCTTTGCCCTGCGCTGCTTTGCCACTGCTGCTGTCCGCTCACTGTCCTGCCTGCTGTCCTCTACAGCTCCCTATCCTTCCATGTCTTTGGCCATGTAGATTAAGTGTAGGCGTCCGGTTCATTCTTACCTGTGTTAGGCCATGTTATTTTATAGCGAAGTCATGTTCGATAGGGATGGTATGAAATGCTGCTGGTGGGCTGGTAAATCCAAAGGGATAAGGCTTCAGTGCTGTTGGGAGCCCTCTGGCTCCAAATGTCTGACTATCTTGAGGGAGAAACAAGCAGGTTTCTACTAGTGGTGTCTTCTGTTGTATTAACTTCTTTCCTTTGTGGTATCTTGTATCCTGTTTTAAAAACTAAATGAAGGGAACCACATTAGGGCCCATGCCAGCATCCCAGTGAAGTTCGTCCAGCTCCAGTTAGGTGGATTCTGGAGTTCGGAGAGGGTTTAAAGTTTGGCTGAAATAGCACCTCAAGTGGGGTTTAGTTTTATTTTTACCTGCGGGCATCATGGGCGATTTAGGGGGAAGCACAGGATGGTGGTGTGGTTTAAACCTGCAGCAAGCAGGCATGTTGAAGAGTTGAGTGATCACGCTGGAGATGAAGGGTTGGACATGGATTGACTGGGAAAAGGCCTGGGTCCATTGGAGTAAAGATAACCTAGTCGATTGAATTGGCCATGGGAAGTTAGGTCACAGTCTTATAAACAAAGTAAATAGGACAGAGACTAAGTTTTAGGGAGACATCTTGGCCTCCTAGGCTAAGTTTACTAAACCACACTGAAGCTATAGTACCTTCCAGATGGGCAAAAGTGTACACTACAGTTGAGGAGCTGAACCTTATTAGGTTGGATGTCGATCAGGAACCTGTTTGCCCTTTGCTGGGAAGCCTTCACTCTCCAGCTTTCCTGGGGTAGGGAAGGTCTCCCACATTATGCAATAATAAAATAAGCATCTGGGTCTTTGCAGCTGTCAGTTGCTCTTTCAACTCTAGGATCCATCTTTGGACCAGAAGCCTGGTCTGTGCCTAGGATGACACTGGCCCCAGAGATGCTAGAGTCGACTGCACTCTCTCCTTAGCTGCAGACCATGCACAGTGCCTGGGGCGGAAGGAGGAGAGGTGTTGCGGTTTGCCCTGCTGCCTCCCCAGCAGGAACAATAGTCATAAATGCACTTTTCACACTAAAGGTTTCTTTATTAGTTCTCCAGTTAAACCTAGATCCCTCCCTGGTAGATTGCGAACTCAAAGTTTTGTGATCCCAAAGCCATTCCACTGCAAATGCCCAGCAGTGAAGATGGCCTCAAATTGGGTTCTTGCCTGCAGTGTGTGTGGCAGCAGCCCATGTGCCTTTACCTGTTGTCAAACTTGCAAGCATTTATTTGTCTTTATGACTGTCATGGGGACTGAGGTTCTTCAGAGAAAGAGTGTGAGCTGATGACACAGTGGTTTTACACCCACCCCCTGGGCAGGGAGTTTGCACGTAGTTGTGAGCTGTGAGTGGTTAGTGCATTGCTGGTATTGCTGAAGGCAGGGTTGATCCCTCACTTGACTGATACTTGCATTCAAGAGAATCTAGATTGTGTTGGGGGAGGGACTGACTGTACTCATGGCTAACTTAAAGTATTAAAATAAGGCTGTCCCCTACAACCTTCTTAGTCACACAGGATCCCTGTAGCCAAAACAGTATATGATCCAGCTGCAGAGAGCAGACTGCTCTCAGCTTGCACAGCACCTTAGGCGAGGGAAGAATATACGGATAGGGAATGGGGTGGAGAAAGGATGGGAATGTTGTCATCCAGGTGGCTTTAGGGTCCTAAGGAGTGGAGAAGGATGGCACTGGGGAGGTCTGGATGGATCTGTGTAGGAGTTCCCTGTAGATAAATTACTGATCCCCCATCTACTATCCCCAGTATGTAATGGCTGAATTAATATGTAATCAACTGCATTGTATCTAAAGCCTTAGAACTAGTCAGGTGCTCCCTCCACCCAATACCATTTCTTACCCTCTAATCCTACCTGATCTTTAACAAAGCATTAATAATTCTAAGGATAATCTCTATTTTGTTGTGCTTTTTTGTAACTGTTTTAAATAAATCAATTTGTACTGTATATTTGTACTTTTGTGAGATCCTTTTTGCTGTTTTACCATTTTAAGTCTCTGTACTTGGCTACACACAGATTGTATTTTTATTGTTAATGCTCTTCTTATGGATACCTGCATTTAACTTGTGGACTATGTAAACACAATATCTATCAATATCTATATATCTATATATCTATCTATATAAACTACTAGCTTTTCCTTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000224470:ENST00000427980:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

5' UTR

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

C1:
NA
A:
NA
C2:
PF085177=AXH=WD(100=16.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGAAGCACCACTGGAAACTCA
R:
TGATGGCCTCAGCTCCATCA
Band lengths:
354-1906
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