Special

HsaINT0161631 @ hg38

Intron Retention

Gene
Description
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Source:HGNC Symbol;Acc:HGNC:16987]
Coordinates
chr13:52653046-52657622:+
Coord C1 exon
chr13:52653046-52653103
Coord A exon
chr13:52653104-52657531
Coord C2 exon
chr13:52657532-52657622
Length
4428 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
3' ss Seq
CCACATGTTTGTTTTTGTAGGAG
3' ss Score
7.78
Exon sequences
Seq C1 exon
GTTTTTCCAGAGCTTCTCGGATGCCCTAATCGACGAGGACCCCCAGGCGGCGTTAGAG
Seq A exon
GTGAGAGAGCCCATTTCTGCTTCCTCCACTCTTCTTAGGGGAGCTGGGCCACTTCGGGTCCCCGCTGACCCGCCTTCTCCCCGCACCGCCGGACAGGGACCCAGGCTCTTGTTGATGCTGCGTCTCAGCTCCGGTATTGAGATTCTCCGTCTCTTTTCTCTGTTACACGGTAGCCGCGTTACCCCAGACTCCTGTCTTGCCCTTTCCACTCCCTACAGCTCCTGAGAAAAACCTCCTCTATTTCTTGGGAGCATGGTTGGCATTTGTAGTTTGGCTGAAAGGATTTTTTTTTTAATGACATTTATGATTAGAGAAGTGGACTCTGGGCTCGATGAAGTTAATTTTTTCGTTTGACAATAATTCTTGCCATTCTTACGTAAAAGTGTCGGTATGAAGTCAGTCTACTGGAGCAAAACCCTTTTCCCTCACGTCCCTGAAACTTTCCAGATGTCTTATCACAATTCATTATTCACTCATTTGTATATTCATCAAAATTTTTTTTTGGAGTGGCTGTGTGCAAAGGCGCTGATTGCTGTGGGTTAAAGTCTTGGTTATATACTCAGCTAACCTAGAAATCACTTTTTGTAGGTGTGCAATGAAGGCAAACCATAAAGCTGTAAAGGAATGTAAAAGATCAAGAGTTAAATAATAAGAATTAAAGGAGAACCTAAAGATAAATGATGCTGCGGGTCACAGAATTTAGCCAGGAGTTTTTGTTTGTTTTTGCGTTAAATCACAGAAAAGAGGAAACCTGTTTTGCTGTTACGTTTAACAATTTGAGGCAAGACAGCGTCTTTTCTAGCTATGACTTTTATAAGAAATGTGCCACATGGTACTAGAGCCTCCGTTGAGGAGATCTTTGAGTGGAGATTTGAAGGAACAAGGGAATTAACTTGGAAGCTCTGGGGAAAGAATATTCCAGGCAGGACCAAGAGCCAGTGCAGATCTTGAGGTAGGAATGAAGTTGGCCTGTATGTGAAGCAACAAAAAGGCCCTTTTTATTAGAGGGCCCATTTGATTAAGAGAGGTTGGACAGGAAACTAGGAGCCAGGTCCTATAAGGCCTTTTAGGGTCCAGGTGTGTTTTTTACACCTAAATATATAGACCTTTAGATACTGGGAGTAAGGCTTCTGGGATGAGTTTGGGGATAATGTTACAGGAAGCACTGAGAATTTTTCTCCATAATTTCTTGTATTAGCTAGACAGCTATGACTTTTAATTTACATTTGTTATTGTCGTGTTAGACCTAGTGCTTCCTTTGGGAATCCAGTTTATATAAAAGTTGCTTTTAAACAGTATTAACATAATGAATTTTATTGTCACTTTCCATCTTCTTTTACTTTAAAAATTTTTATGGAGGCATATATGATTTATGTAAATAACACAGATTTTAAGTCTATAGTTTGATGAGTTTTCACATGTTTACACCACCAGATTAAGATACAGAGTATCTCCATTCATAATGCTCCTTAATGCGCCTTCTCAGCCAGTAATTCTTCTTACTGTCCTGCTGACTCCTGCTTTGACCTCCATCACCATCAGTTAGTTTTGTTTGTTCTTGACTCATAAACAGAATCATACAGTAGGTGCTTTATTGAATGTAGACACTCTTTTTGCTTTAATGATTACATAAGTATACATTCATATTGTGTGAAGTAGTAGTTCTTTCGCATTGCTGTGTAATATTCCATTGTATAAATATATGTTGTATAGCCGTAAGTACGGCGCAATTTATTCTAACAGTGGACATCTGGGTTATTTCTAGTTATTAGCTAACAAAAAGCTTCTGTGAATACTCTTGTACATGTATTTTGGTGAACACATGCATTTCTTTTGGTTGTATGTACCTAGGAGAAGAATTGCCTAGGATAGTCATGTGGCTAGTATTAGTACCTTGGTTTTTAATGTATGGCTCTTGGACCAGCATTATCAGCATCACCTGGCAATTCATTAGAAGTGCAGCCGGGCGCGGTGGCTCACGCCTATAGTCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCAGCCGTAATCAGCTACCTGCGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGTTACAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCCAGGCGACAGTGAGGCCAGGCCATCAAAGGCATTAAATCCCAGCACAGGGTTTTCAGTTTTATCATATGATTATGGAGATCCGTCAAGAATTTGGAGGAAGGAAAATGAAATTTTCTGAATTACAAAACCTACTTTAAAAGCAGAGTAGATAGCGAATTGGAGGAGGCACAAGGGATAGTGGATAGCAGGAAGATGGTAGTGCAGACCGGGTCAAAGATGAATATTTGCATGTAGGGCAGTGATTGAGGGCATGGAGGTGAGTTGTTTTATGTAAAATGCACCGGACTTGGTGACGATTAGAATATAAGGGATGTCTCCTGAGTTTCTGGCTGGGGGAATGTTGTAGGAACTGGTGCCATTCATTTAGATAGCACTTAGGATGATAGCACTTAGAAGATTGCCTTCAGCATGGGGGAATAGGTTTGAGGATAGAAAGTAGTTTTAGATTGTGAATATTTGTATATGAGTTGCCTCTGGGACATTTCAGGTAAAGTTTAGAGAAAACTATATGCTGATGTTGCCCAGGACCACTGTCTAGGCTCAAGATAGACTTGAGTCATCAGCATGCATCAACACATATGTGAAGCCCCCCAGTAGTTAAGGAATCAAAGAATGTTTGTAGAGGGGAAGAAGTCTTAAGTACTGAGCCCAAGGAGAACATTAGTTTTTAAGAGGCAGCAGAATGGTAAGCTGAAAGGCCTGGTTATTATTGTCAAGGGCCACAGAGAGATCAAGTCAGATAGGAATCAGTTGGATTTTATAAGGGGTTATTAGTGACTTTGAGAAGATTAAGACTAGAGAGGCAAATATTTTTGTATTCTATGGCAAAGGAGATGCAGTCAAAGTAGAGACTGGGGAAAAGGCTGAAAAAAGTCTGCAAGAAGAAAAATCAATACTTTTCATTGAGTGATTACTGGATGTCACATACAGATCTAGGCAAGCCCAACACCCTGGAGTCATCTTCAGTTTCTCTTATCCCACATGTTCACCCATTAGCAAGTCTCTCTGCTTCTAATATGTTCCAACTTAATCGTATTTCTTTTCATCACCTCTGTGGCTAACATCCTTTTCTAGCCTAGACTTAATGTAATAGTTTCCTAAGAAGTCTCCGTTTCCAGTCTTGATTTGATAATGTATTTACCATACTGCAGCCAGAATGACATTAAAAAAAAGTAAATTGGACCATGTTCCCCTTACTAACAGTGAACTTTCCATGGCTTTCCATCAAACGTAAGGTCCAAATTCCTTATAACTGCCTGCAAGCTACAAAGTGAGGCCCTTAAAGTAGCATCTTACAGCTTCTTTGCTCTCTTGATTTGAGCCTTACTTTCTGTTGATTGACTGTAACCCCATGTGAGTTGAGGAGCATCTGTATATGTTGCTTTCTGAGAGTCACACTACTAGGTTAAAGCAAAGTCAATGATACATGTGGCTCTTGAAATAATTTTACCATTTAAGAAAACTACCAAATCCCTAGAGTTTGTAGGCAGTTGGCAGAAAATAAAAGTGTTCCTGCACTTGTCTTTGATCTCCCTAATTGTGTAATCTCTTACATCATTATTTTTCCAGCTACCACACCTATATGTTGTGACTGCACAAGTTAAAAAAGTTTCAATCTCTAATGTTAACTCTTGGTAGTTGACATAGCCATCTATTAGATTGTATCTGGGCTTTGAACAGAATATTTAGTTGGGTTTTATTAGAGTTGTGTGCTATTGTTAGAGGCTAGGAGAGGGCCAGGTACACTTGATTGTGTATGTATTGATTGTCTTAACCTCCCTGAGTGCTAGATTTAACTTCTGGTCTTTTTTTATTGCACAGCTTAACATTTTCTAGGAATCTCAAATTCTATATGGTGTTTGAATCTTCTTCAAATTAGTAGGAGGAAATCTGTAATGGTCAATGTGTAACAATTAAACTCTTCAGAATATATGAGCTGATAATAATGATCATTTATTAAGTTCTATAGACCAGGAACTAAAAGCTTTACGGTACAGAGATGCTACATTAGATTGCCTACTTTTGGGAGGAGGGGCAAGAGAAGTGGGGGAGATATTGATCCTTTTATAAGGAAAAACTCCAATATTATATCCGTGTTATCTTTCCTCCAAATAGCTTCTGACAATAAGTTACTTGATTAAAAATTATGTTTTAATTAGAATTTGATGGCTTCTTACAAACTTTTACTGACGCTCCACATGTTTGTTTTTGTAG
Seq C2 exon
GAGCTGACTAAGGCTTTGGAACAGAAACCAGATGATGCACAGTATTATTGTCAAAGAGCTTATTGTCACATTCTTCTTGGGAATTACTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165416:ENST00000483074:2
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=0.145
Domain overlap (PFAM):

C1:
PF134141=TPR_11=PU(21.1=60.0)
A:
NA
C2:
PF134141=TPR_11=FE(52.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
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