Special

HsaINT0017364 @ hg19

Intron Retention

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23595986-23603241:+
Coord C1 exon
chr22:23595986-23596167
Coord A exon
chr22:23596168-23603136
Coord C2 exon
chr22:23603137-23603241
Length
6969 bp
Sequences
Splice sites
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
3' ss Seq
TCTGTCTATTTCTCCTGCAGAGT
3' ss Score
11.51
Exon sequences
Seq C1 exon
ATGGCTCGTTCGGAACACCACCTGGATACGGCTGCGCTGCAGACCGGGCAGAGGAGCAGCGCCGGCACCAAGATGGGCTGCCCTACATTGATGACTCGCCCTCCTCATCGCCCCACCTCAGCAGCAAGGGCAGGGGCAGCCGGGATGCGCTGGTCTCGGGAGCCCTGGAGTCCACTAAAGCG
Seq A exon
GTGAGTCCCCATGGTGTACGTGTGGCAGGAGGGCCAGGTGAGGCTCCCTGAAGCGCAGCCCCATGCTCAGGGGTATGTAGCAGGTAGGTGGTGGAGCAGCCAATGGTTTGGAAGCGAGTGGGTCACCAAAAACTCCTTCCTCATCTCTACATGTGGTACACAGACAGCCTGCCAGATGTGTTGATCAGGGAGATCGGGGGATGCTTTGAACTGAGCGTGGAGGAGGCAGGCAGCATGTGGTCTTGAGGCTGAGAATGTCAGCACCAGAGGCCACCACCAAGACCTGCGTGGTGGCGCCGGCAACACTCCTGAGCCAGGTGGTGTCTGGGCTTGGGTCCCTTTGCTTCATAGCCTTCTTGCTCCCTTTTACCAAAGCGTGTGCTGAGGATGGCTCCATCCATGTGACCAGAGCCTTTCCTGTGAATTTTCACTTGACCCTCATTAATAATTCTTGGCCTTTCTGTCACTTCCACTTTACAAAGGTGAAACTGAAGTCCAGTGGTGGCTTCCCCAAGGTCTCATGGCTAGTGAGTAGCGGCACATTCAGTAGATGCTCTGCCATGCCCTCCAAGAAAGCAGTGGACCCACGCCCCCCCTCACATGAGAACGTAGCCCGGGCTGGTTGCAGGCTGGATGGTGCTGGACCGCCCGGCCCTGCATGAAGTTCTGATTCCTCTTGCTGGTCCCACAGCTCAGGGGGCTGCTTCAGCAATGCTCTGGGGCCCAGATGCTCACCCCTTGCCATTGGTGCATGTCCCCCCACTTGACCTCTTGGGTTCCTTACTTCTTGGGCTGAGAAAATCACTGCCCCAGGGCAGTTGCTCCTTTTTGTCTTTTTGGTCCCTGATGACAGATTACTTCCGCACTCTGCTTAGCTTATTTCTAGATGGTTTCCACCATAGCCTGGCATGGTGGCTCACACCTATAATCCCAGCGACTCAGGAGGCTGAGGTGGGAGAATTGCTTGAGTCCAGGAGCTCGAGACTGCAGTGAGCTGTGATTCTCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTATCTTTAAAAATAATAATAAAAAAATAAATAAAAAGAGCAAGAGAGAGATGGACTTTTCCCCATTTCTGTAAGGAAGCTCCAGAAGTGTATCTTCTCACTGAGCTGCTTTTTTCTGGGGCTGACATGTTAGCTGCACGCCTGGGACTGCTGCTTACGTATATACTTTTGTGATTTCTGAAGGCCTTGGTGCTGGGCAGGCTTCTCATTCTGAACCGAGAGGATGGGAGAGGAAGCCAGTGGGTAACATGTACCTGCTCCGTGCAGCACACACAGGCTGCTGCCTTAGGTAGCTTCCTATCCCACGTCGAGTGTCAGCTTTTTACAGACTAGGAGGCCGAGGTTCAGAGAGGTGAAGTAACTTGCTTGGGCCACACAGCTCCAGGGTTTGAAGCCTTCCTGATTCTTCAATGGGCACACTTTCCCTCCCTCAACTGTCTTGTCTTTCTTGGTGCACCCCTTTCTTGCTGCATTGTGAGCGTGGTTTGGTACAAAGAAGGACCAAGTTCAGGTAGGCTAAGTGCTGAACTTGAGAAAGGCAATTTCTTTCCATCATTCTTGAGGGCTATCTGCACCCAGCCAGTCCTTGATGCAGTTCCTGGCCCCGAAAGGAAGCTGATCTGCCCACTCAGTGCCCCAGTCCCTGTCCGGGGGTGGGGGCCTCCCACCCACACCTGGCTCTGACTTGGAGTACAGCCTTCACCTTTCAGTCCAGGGCTTCTCCTCTGTGAAGCCACTCCAGATCCTGGTCCCCCGACCCCTGCTCCCTGCTTCTGCCCTCACAGGAGCTGTAGATGTTTCTCGTGGTGCACATCCTGCAGGAGGTTGCACGTCTCTGCCTGTCAGGTCCAGAGTTTCCAATCCCAAGCACGCCCCTTGGCCCAGAGCTGGTCTGAAGAGGAGGGGATTTGATTGGAGGAGAACTGTGTGTAGCTCCTTTCCAGAAACCTTCTGGTGCTCTTCCCAGTGGTTGGGGCCCCAGGACGGGTACCCTTCACTGCTCTGGAGACAAGCATAGCCTTGACTTCCTGGTTTCCCTGCCAGCCATGCAACAAGCCATGCAAATGTCATCTTTCATTTCTGATCTTTGGTTTGAAGACATGGCTGTCGCTTCCTAGGACACCTGACTTCCCCCAGGGAGCATGGTGATCTTGAGGCCAGAGGCACCCTGATCCTGACCATCCAGTGGGAAATGGGCATCAGGCTGCTCATCCCTCTCCTCCTGCACGCCACCCACCCCTCATTTGGTCCCAGATGCTGATCTTGAGTCTTTGGGGTGTCAGTGGACTCCTGTGGCATGGGTCTTCTCTGTGAATACCCACTCGTAGTGCAGACAGAGGCTGGACAGAGGCCAGGCACCCCCTTGCCCGGGGTGCTGTGGGAAGGATTCACACAGGCTGGCCTGTTGCGACAACCTGCAGCCCCAGGACCCTGTACAGAGGCCAGCCCCTTGCCCTCTGGTATGCCTTGAGGGCCAGGTTCTTGGGGTGTTCGCCGGCTGGGCCGCAGGACAATGTCCAGTCTGTTGGTAATGAAAACCTGCCCTTGCCCAGAGCAAGAGGGTCCTTTCTCCAGCAGCTGTGCTAGCTACACACTCCCAGCCCAGAGCAGCCTGCCCCTCGCAGTAAGGGTTTTGCACCCTGATCACCACTGGGCTCCCCCAGATTAGGGGGACTAGGAGGAGGGACTAGAAGGGGCCTCTTTGCACTCTGCCCTGTCCTGAAGCTCAGTTCCAGCTCCCGCCCTCAGTTCACCCGTGGGCCTGGTAGCCAGCTGACAACAGTTTTATTCACCTGTTCTCTGTTGGCTTTTCCTGCTTGGTTGTCACAAGCCCAGTTTGTTTTGTGGGTTCTTTATTGGCTTTTATTTAGCCTCAAGTTTTGTGTTTGTACCCACCTAGGTAGGGTCATGGTAGGAGGGCCTTCCTTCCATGTCACTGACTTCTTTTTCCAATTTCCCTTTACCTCCGGCTTCCTACCCGCCCCAGCCTCCTTGCCTGCCTCCATGGCCCTCCCTGCATTCACGTCCTTTCCCATAACTGGCACAAGCACAGCCCTGAGTTATAAATAGCCCCAGGCCAGGCCCTGCCCTTTGCTCTCTCGTTTTCTCTGCATGGACTTGGCTGATTTCTGAGCCATCCCTGTCTGATGCCATCAGCACTATTCAGGACTCTAGAAGATTCTTAGTCTAAGGAGAAGTGCCTCATCCTGAGTCTTGTCTCCACCCCACCCCGTCCATGCCCTGAGCCAGATGTTCCCTGAGCGGCCCCGCCCTTCAGAACACGGAGGGAGAGCCAGATTCTGCCTTCCTGCCTGTGCTGTTTTTCCTCCTGGCTTTCCAAACCATGTGGACAGAACGAGACACAGTGCTCCCACCCACGCCGGCACAAGCATCTCACACTGGGTGGGGCTGTCATGGGCCCTGCTGCCCTAGCAGCCTCCCTGGGCCCTACAGGCCGCCTGGTACTCATAGTAGCAAGATTGTCCTTAGAACATGAGCACGGCTGGCAGGCTGGGTGGATGGGTGGCGCTGCCCAAGGGACCCACCATTCCCTTCACCTCTTCTCCTCTTGTGGAGCAGGGAGCGGCATCTGCACACAGTAGGAGGCACCTGCAGGGGCAGCTGGGGTGCTTTCCCCAAAGACTCCACCATTCATGATGGGCAGAGAGGGGGTGTCATAGGTCGCCCCACCCTACGTGTATGTGCACCATGGGCAGCAGACTTGCTGAACTTGGGTAGCATTTCAGGGCACCAAGGCAGGCTCAACTGACAGCCCTGGGTTCCTTGGACCCAACTGTCTCCAAGTGAGAGTACGGAGACCCTGAAGGAGCCCTCAGAGATTCATAAAAACGCAGCCAACACTAGGATACAACCAGGTGTTTAAGATCCACTCATTGATTTATTAAATGAATCTTAATTGAGCACCTGGGTGTTCTGGGCACTGTGCTAGACAGGGAAGTTCCTAGCTCAGGCACAGCCGTGGCCTGGAGGCTCCCACCCGTGGAGTCACTGCCTACCCTGCCCTGGGGGGACAGGTGTGCATGGAACCTGCGTGTCCTTTTCCTTGGAGCTGCTCTCAGCCCAGATCTTGATGGCTGTCCCCCCCACACACATGTACGTGTGTATAAATGCATATATATACACACATATACACAGGCACCCGGGCATGCTGACACCTCATGCATACATTCACACAAGTGTGCACACACTTAGGAGATTCCCAGGGCAAAAAGGTGGCCCAGGAAGGCTTTTTAGATGGTCCCAGTGGGCAAGTGAGGATGTGTGGTCCAAGCCCCAGGGACTCAAATGGGGCACAGGGTGGGGCTCCCTCCCCGGGCAGTGGAGGCTCAGGGCCGGAGGGCATTTGCCTGAGACCATGGGGCAGGCCAGGCCCTGGGCACTTCGTGTTGAACCTGCTGTCTATACCATGACATGCCTCCCTCCTAGAGGGCCAGGGAAATAGGACAGCAGGGTTGGGAGTAGGCAGGGGCTGTGCTGGGACCCTGATTCCAAATTCTACAGATACCATGAGGCCTGAGCTGACCTCAGTCAGATCCTTCCTCAAACCCATCAGTTCTCACTGGAGGTGATTCTGCTCCCAGGGCATGTGTGGCAGCGCCTGGAGACATTGTGGCTGCCACACCTCGGGGGAGAGGGTGTTACTCACATACGATAGGTAGAGGCAAGGATGCTGCACAGAATCCTGCAAGGCACAGGATGCCACCCAGCCCCTGACAGAGACTCCTCCGGGCCTAGATGTCAGCGGGGCCAACGAGAAGCCTGCCCGCAGCCAGTGATTTTCCCCGAAAGTGGGAAAGTGAGTGATCAGGGACCACCGCCCCAGTTCCACGCCTGTGAGCCCAGCAACCAGTGGAGAAGTGGACGGGGCTGTCACAGACACCGGACCTGGCACCACCCCCACCCCCCGCACCCACACACTTTCCTCTGACTGCAGGCAGGGCCATTGGGCACAGGCGGAACAAAGGGAGCACGGCCTCAGCCCGGTGGAGCACTGAGGTGCTGCCATGGGCATGGCCAGCCTCCAACATTGCCAGTGGCCAGGGAGTAGGCGGGAGTGGCCAGGAAGTCAGGTGGCGATTTCTGTGGCCTTTGGCATCATCATCTTTGGTGTCATGCCTTTGCTGGGACTGTTGTAACAAAGCATCACAGACTGGGGGGCTTAAAGAACAGGAGTTTATTTTCTCCTAGTCCTGGAGGCCTGAAATCCAAGATCAAGGGGTGGGCAGGGTTGGTTTCTTCTCGGGCCCCTCTCCTGGGCTTGTCTTCTCTATGTGTCTTCACATAATGTTCCCTCCATTTGAGTCTGTGTCCTGACCTCTTCTTTTACAAGCACCCCAGTCCTGGTGGGGTAACATGGCTCATGCCTGTAATCCCACCACTCTGGGAGTTTGAGGTAGAAGGACCGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGACAAGACCTTGTTTCTATTACCAAAAAAAAAATTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCCACAGCATGGTCTCGGCTCACTGCAACCTCCCCCTCCTGTGTTCAGGCAATTCTCCTGCCTCTGCCTCCCAAGTAGTGGGGATTATAGGTGCCCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGCTGGTGATCTCGAACTCCTGGCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAACTGCTGGGATTACAGGCGTGAGACATTGAGCCTGGACCCCCCAAAAATGTTTAAGTTAGCAGAGCGAGGTGGTGGGTGCATGAGGTCCCAGCTACTTGGGAGGCTCAGATGGGAGGATGACTTGAGCCTGGGCTCTCAAGGCTGCAGTAAGCTGTGACTGTGCCACAGCGCTCCAGCCTGAGCGACAGAGTGAGACATCGTCTCAAAAAAAACAAAAAAGAATGTGACATATGGAACCTTTTGGCTTCAGTTTACCTTAAAGGCCCTGCCTTCAGATACGGTAACGTTCTAAGGTACTGGGGGTTAGGGCTTCCACGTGAATTTGAGTGGGGAGGGGAGATGTTATCATAACTAGGACTAGAAGGTGGCCTCCCAGGGGCATGGGCTCTGTCCCCTACATCAACATCCAACAATGTGTCAGCTTCATCATTTGGAGACAAAAACAGTAGAGCTTCCCTGAACTTTCAGCAGGGACGCTAATGAGAAGGGGGGACTTTGTCATAGCCCACATGTAAGAGGGTCCCTGCCAGTCCAGTGATGTCAGGGTCTAAAAAGCAGGGTCAGGGGACACAGGCCTTGAGCCCCAGGGACAGGGTTCTTCTGGGGCAGATGGTAGCAGTCCCTGTGGCTGGGAGGGAGGGCATCTGGAGAAGGCGGTGCTGCCTGGGCCCCGTCAATCGAAGGGTCATGTGGCGGCAGCAGTCAGAGAATCCAGGTGAGGCGGGCCCCAGGTGAGCAGTGGGGAGTGGAGTTTGGCTGCAGCAGAAGCCAGGTGGCCATGCTGTGGGCTCTGACGCCCCCTCAGGTCAGAGCCTCCTTCTCCTTCCCTGACTGTGTCAGGCAGCTGCCCTTGGGTTGCATGCAGAAGCGTGGAGGGAGGCCTGGCCCAGCCTGCTCCGCACCAAACTCTGTTTCGTGGTCTGGCAAGAGTAAGGGTGGCCCTGGTGTTGCCAGATGACCCCCCTCCCCGGGATTCTCAGTGACTGTGAGTGTGTGGCTTAGTATGTGCGGAGGGTCCCCTGCCTCCCTTTAATTCCATGTGGAGCCTTTGTGGGGGCAGGGGTTTGTCCAGAGGTCAACAAGCTGGCCCTCCTCTCTCAGAGGGCCCTGATGGAAGAATCCCCCTACCACCCTTCCAGGCTGACTTCTGTCTATTTCTCCTGCAG
Seq C2 exon
AGTGAGCTGGACTTGGAAAAGGGCTTGGAGATGAGAAAATGGGTCCTGTCGGGAATCCTGGCTAGCGAGGAGACTTACCTGAGCCACCTGGAGGCACTGCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716-BCR:NM_021574:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.831 A=NA C2=0.003
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0062115=RhoGEF=PU(10.6=57.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
(BCR)
Zebrafish
(danRer10)
ALTERNATIVE
(bcr)
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