Special

HsaINT0149360 @ hg38

Intron Retention

Gene
ENSG00000097033 | SH3GLB1
Description
SH3 domain containing GRB2 like endophilin B1 [Source:HGNC Symbol;Acc:HGNC:10833]
Coordinates
chr1:86722540-86724405:+
Coord C1 exon
chr1:86722540-86722673
Coord A exon
chr1:86722674-86724312
Coord C2 exon
chr1:86724313-86724405
Length
1639 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
TTTCTTTTCTATATTTATAGAAA
3' ss Score
8.32
Exon sequences
Seq C1 exon
GTAATGCCCTTATTAAATGTGGAGAAACCCAAAAAAGAATTGGAACAGCAGACAGAGAACTGATTCAAACGTCAGCCTTAAATTTTCTTACTCCTTTAAGAAACTTTATAGAAGGAGATTACAAAACAATTGCT
Seq A exon
GTGAGTTGAAAAATGTCCCCTTTATTTAGTAAAATCATTTAGATATATATACTTTTTAATGAATAATTTGGCCTCTTAATGACTGTGTAGATGTAGTGGATTACAAAATTAAATAATCTAGGTCAGTGCATGTTCACCAGAACACAAAATTAAACCAAAATAAAAGACTACTGAACATTTACTCCATTTGTGTGTCCTACAGTGTTATTGAGATGCCTTTATCCCTTTTCATTCATTACCAACGCTAAAATCTATAGAGAGGTTCCTGGAATGATTATGAAAATATGGTCTAAAATATCACCATAGTATATATACCGTGTAGCTCTTCATTTTTTAGGATTTTAACTTATTTTCTTAGTGATAGAGAATGAAAATTTTCTAAGAGTTTTACAAAGCTGCTCTTATAAATACTTCAAACTTTAATTTGCAGATTTCCTATTACAATATATTATAGAAACTTTGAATATGTTCACAATGGATTTGTCTCTGTATAAACAAATATTTGGCCTGAGACAGAAGAACTATCAAGTTAAAGTATGATTTAAAAGATATTAGCAGCCGGGCGTGATGGCTAACGCCTGTAATCCTAGCACTTTGGGAGGTCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATTCCAGCTACTTGGGAAGCTGAGGTAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCCATCTCAAAAAAAGTGAAATAAAATAAAATAAAATAAAAATTAGCTTATCAGTGCAATGAAATTTGACATATGGAATCTAAGATTAAAGCAAACTGAATTATAATAAACTTACATACTATACAGAAGCTTGAAATTCCCTGAAGAATTCTAAGATACTATACTAATGTTTATTCATTATTCTGTAAGTTTGAAATTCCATTTTGGAGTGGTTGGGTTGCATTTGGTGCTATGACACATTAAGTGCAGCCCACCCAATCCTTGAGGTAGGACACCAGGCGTCAAGGAACCCTTGCCCCAGGCGTATACTTCCTTCTTTCTAGGCACTTTCTGGATAATCTGTAACAATTTGAAAGTCAGTCTGGCCACTAATGACGTTTTGGGCTGCACAATTCCTTGTAAAGATAGACTGTCTTGTGGAATGTTTGGCAACATTTCTGGCTTCTGGCTAGCAGACTCCAATAACATCCCTCCACCAATTGTGACAACCAAAAAGGTATTGCCAAATGTTCCCGAGGCAGGGACAGGATCATAAAATATTAAAACTGATATTCCTTTGTTTCCATCATTGCCTGCCATCTTTCCCAGACACTTACAATGTTTCAATTATTTATTTTAAAATTTAAAACAGTAACAAGGGGGTGGGGGGGGGCAGATACATGAATGGTAACTTTATAGCCAATTTTGTAGTCATAGATCTTTATCAAGTGATACATATGTTTACTAGGGAATAATACTTTAAATGTGTATGCTCTTAACAGAATTTTAGCATCTTTAGCCCTTATTTTTTCTTTTCTATATTTATAG
Seq C2 exon
AAAGAAAGGAAACTATTGCAAAATAAGAGACTGGATTTGGATGCTGCAAAAACGAGACTAAAAAAGGCAAAAGCTGCAGAAACTAGAAATTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000097033:ENST00000370558:4
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=0.194
Domain overlap (PFAM):

C1:
PF0311413=BAR=FE(17.9=100)
A:
NA
C2:
PF0311413=BAR=FE(12.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCTTATTAAATGTGGAGAAACCC
R:
TGAATTTCTAGTTTCTGCAGCTTT
Band lengths:
222-1861
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains