Special

HsaINT0067768 @ hg19

Intron Retention

Gene
ENSG00000136895 | GARNL3
Description
GTPase activating Rap/RanGAP domain-like 3 [Source:HGNC Symbol;Acc:25425]
Coordinates
chr9:130151183-130153046:+
Coord C1 exon
chr9:130151183-130151398
Coord A exon
chr9:130151399-130152919
Coord C2 exon
chr9:130152920-130153046
Length
1521 bp
Sequences
Splice sites
5' ss Seq
TGGGTAATG
5' ss Score
5.68
3' ss Seq
ACCTATGATTCTCAATCCAGGCC
3' ss Score
7.36
Exon sequences
Seq C1 exon
GTGAAATTCAATCAAAAAATCTGTACAAGATTCCACTTAGAAACCTCGTGGGCAGAAGCATCGAACGACCTCTGAAGTCACCCTTAGTCTCCAAGGTCATCACCCCACCCACTCCCATCAGTGTGGGCCTTGCTGCCATTCCAGTCACGCACTCCTTGTCCCTGTCTCGCATGGAGATCAAAGAAATAGCAAGCAGGACCCGCAGGGAACTACTGG
Seq A exon
GTAATGGTTCTCAATCCTGGTTTCCACTGTCTGTGAACAGACCAGCTGGTTTTATCTTTGGATATGAATTGTCCTCAGAAACAATGAGTTTAAAAGGAAAGTTTCCTTTTAAGAAGGGATTTTTAAGTAAGTTCTAATACCTCTATACCAAGGAATACACTATAATGTAGCCACCAACAGTGATGTTGTTGATCTATATTTATTGGTGTGGAAAGCTGCTCAAGCCATGTGAAGGGGGGAAATGGGCAGTTTATAAAACACTATGTCTAGTCTGATACCATTTTTAAAAATAAAAGTACCAATCTATGTATGATTTCCTAGAAAGGTGTCTAGAAGGATTTATATCCCACAGTCCTCAGACAACATTTTATGTTGGTATGTCCCAAAGTGGAAATGTACCATGTTTTTACACGTGTGTGTTCAGTTCCCTTATTACTTCTCCCAGCCCTAGACAGTGGGGGCAGGTCTGTGGATAGAACAGATGCAAGATATGTGTTGAGCTCATTTCTCTCAGTATAACTATGGGACTGGGCTCACACCTGTTATCTCAGCATTTTGGGAGAGGCTGAGGCAGGCAGATCACTTGAGTGCAGGAGTTCAAGACCAGCCTGGGTAACATGGTGAAACCCCATCTCTATAAAAAATAAAAAAATTAGCCAGCCATGGTGGCATGTGCCTATAGTCCCAGCTACTCAAGAAGCTGAGGCAAGAGAATCGATTGAGTCCGGGAGGTCAAGGCTACAGGGACCCATGATTACACCACTGCACTCCAGCCTGGGTGACAGAGTGACACCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAAAAGATGAGAGGCCAAATCAGAGAAACATAAAGCCCCTGATAAGTGTGAAAAGGTTAGACTGTTAGAAACCTTTTTGTTCAGATTTGTGGAAACAAAATAAGGAAATATGGAAGTGACATGTTAAACCAGGAGAAACTGGTTTGAAAACTTAGACTGGGACCTGCATGAACGTTGGCCTGGGCACACCCCTGCCCTGCAGTAATATTCCCTGAACAACTGCAGGAGGGGATTCAGGCCACCTGACAGGGCAGGACTAGACACTAACAAAGTCCATTGGTTTTTCAAGTTGGTGCCTTCTACTGTGTTTTGAAAATAAATGTATTGCTATTTTTAATGCAGCCTTCCATATCAAAGCTTGATCTGCCCACCACTGTTTACAAACCACTGAGCTTTTGCAAAACGGAACCTCTGAATTGGAGAATTACAGGGTTATCAACGGTAGGACTGTAAATCATCTGTCCTCATTAGGCTCTTTGAGTCTAATTTTTTTGCAAAGTGTGTATACTTTATAATCAGAAAAGAAAAACCTTCTACCAACCAGAAAACCAATAATTTGAAAATATATATTCTATCATCTTTCTTCCTGACTCTAGCACAACAATGCACCAGTTCCCAACCAAGAAAAAATAAGGGTCTTTTCTGTCTCCGTGGCAGCCCTGTGGTAGTGACCCTCTGACCTATGATTCTCAATCCAG
Seq C2 exon
GCCTCTCGGATGAAGGTGGACCCAAGTCAGAAGGAGCGCCAAAGGCCAAATCAAAACCCCGGAAGCGGTTAGAAGAAAGCCAAGGAGGCCCCAAGCCAGGGGCAGTGAGGTCATCTAGCAGTGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136895-GARNL3:NM_032293:26
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.320 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0078017=CNH=PD(0.1=0.0)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAGATTCCACTTAGAAACCTCGT
R:
TGTCACTGCTAGATGACCTCACT
Band lengths:
318-1839
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development