HsaINT0068091 @ hg19
Intron Retention
Gene
ENSG00000148288 | GBGT1
Description
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 [Source:HGNC Symbol;Acc:20460]
Coordinates
chr9:136031402-136036919:-
Coord C1 exon
chr9:136036854-136036919
Coord A exon
chr9:136031453-136036853
Coord C2 exon
chr9:136031402-136031452
Length
5401 bp
Sequences
Splice sites
5' ss Seq
CTTGTAAGT
5' ss Score
8
3' ss Seq
TTTCTTGCCTCTGCCACCAGCAA
3' ss Score
6.87
Exon sequences
Seq C1 exon
GGTGTATCTTGAGAACTGGCTGCCAGTCTCCTATGTCCCCTATTATCTCCCCTGCCCAGAGATCTT
Seq A exon
GTAAGTATGGGTGTGGCTAGGAGAACTGGGGGCCCTGAGGGCTGCTCACAGTTGGGGAGACAGGAGAGTATTTAAGTTCACTTCATCTGCCGGTTCCTGATTCCTAAGTTCATGTTTCTGATAAATGCAATAGTATTTATGTAATTTAAGGGCTGTGACAAGCGTGAAGTGAAATTCCCATTTCGGTCTTCCAGCATCCTTGCAGCCCCCTGCATGGTCTGACCGTCCACATGTTGCACAGCTGTGAGCCTTGCTTGCTGTGTCTGGCCACTGAGAACACAGAGTGCAAAGATGCCCATAAACAGCCTGCTGTTGCTCCCGGTGACCAGCAGGGGTTGTGTTCAGTGCTTTTAGGACTTGACCTTGTTGCTCAATTTTGTGTTCCATGGATTCAAGGAACAAATGAACATGTGACCAAAGTCCTCCTCAACTAAGGAGTCTTTTTTTTTTTTTTCTTGAGTCAGAGTCTCACTCTGTCGCCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAACCTCCACCTCCCCAGTTCAAGAGATTGTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATACCTGGCTAATTTTTGTATTTTTATTTGAGATGGCGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGTTCCACCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACTGCATCGGTCCGGTCACCATCATCTTATTCCACCCAGGGACTGACACATAATTTTTGAGCCTCTCTCTCTTTCCCACCACCAATTGCTCTCGGGATTTAGGTTGCTCCCAATTTCCCAGGGCTCTCAGTTAGTTTGTGATGAGCAGCATAACCCTTTCTCCATTTCAAAGATCATTTTGTTCAGATATGTTCCCTTAGTGGCCGGAGGATGTGGATAGGTTCTGATCCAACTCATTGGGTTATTTCCAGAAGGACCACAGCACATCAGTCACTCATTCATGTGCCCTGCCCAAGCAGTACCCAGCAAAGCCACCGTGTAGTACACCTGGGCTACTGCTGGGAATACCAGAGGTTATGAAAACAAAAATGAACCTACCTTGCTGATTGGGAGAGGGAAAATGCTATCCTCTTTGGTATAAATTTTATTTATTATTATTATTATTATTATTATTATTATATTGAGACAGAGTCTCGCTTTGCCACCCAGGCTGGAGTACCGTGGCGTGATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCAATTGTCATGCCTCAGCCACCTGAATAGCTGGGATTACAGGCACACACGCTAATTTTTGTATTTTTAGTAGAAACAGCATTTCATCATGTTGGCCAGGTTGGTCTTTGCCCCCTTCGGCCAGGCTTCGCCCCCTCATCGGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAACCACCACCCCTGGCCTTAATTTTTTTTTTTTTTTATTATTACTAGTGAGACTCTCATTTCCCTACGTCTTCCCGTTAATTGAAATTTTTCTTGTGTGAAGTGCTTCTTCCCCACCTTCTCTGTTTGGTCCGTTTGTGGGTTCTCTATCATCACTCTTGGCTAAGTATACCTACAACTTTTTTTTTTCTTTCCAGTTTGTCTATCTTGTGTGTGTGCGTGGCGGAGGGAGATAAGGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCACAGCTCACTACAGCCTTGACCTCCTGGGCTCAAGTGATCCTCACACTTTAGCCTCCTGAGTAGCTAGGACCACAGATACTCACCACCACACCTCCTAGCTAATTTTTTTTTATTTGTTTGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGGGGTCGTCCCAACTCGCCCCTGCCGGGATTGCGGGCATGAGCCACCACACCGGCCTGCTTTTGTATTCTTGTATGTAACTCTTCACTGCAGCTGGAGTGTGTCTGGGCTTGTGGAGAGAAAAGAGGAGCTCGCTGCCAGGGAGGCACAGAATGCTGGGCTGTTTGGTACCCCTTCTAACTCCTGACCGCTTCTTGGAATCCCAGGGCTTTCTGAGCAGGGCCCTGAAACATGCTTTCTTGTAGGAAACTAGGGCAGAGGGCCAATTTGACGAACTGACTTTAAAAAATTGTTGATTCAAGAGTAGCAACTTGGCTGGGTGTAGCGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTAATAAAAATACAAAAATTGGCGGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGATCCCAGGAGGCTAAGGTTACAGTGAGCCAAGATCACACCACTGCACTCCAGCTGGGATGACAAGGTTACTGAGACTCCATCTAAAAAAAGAAAAAAAAAAGTAGCTACTAATCACAAAAGGACAAAAACTTTATTATTCCACTTATAGGAAGTACTTTCCATACTCAAGTTCATAGAGGCAGAAGTAGAATTATGGTTCCCAGGGGCTGGGGGCGGGGCAACGGCAAGCTGTTGTTTAATGAGGACCGAGCTTCCTTTTGGGATGATGAAAAAGTTCTGGACACAAATGTTGGATGGTTGCATGACAATGTGAATGTACCTAATGCCACTGAATTGTACACTTAAAGATGGCTAAAGTAGTAAATCTTGTGTTTTGTATACTTTACCACAAATAAAAGAGCATAGCCTAGAGGTGGAAGAGTTCAAGGAGGCTTCAGCCACCCCATCATACATGATGTATTGAAACTCACAGGGGACCAGGCAAGGCAGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGACAGGCAGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCAGTCTGTACAAAAAATATTAATACAAAAACAGCTGGGTGTGGTGGTGGGCACCTGTGGTCTCAGCTCCTCAGGGTGCTGGTGTGGGAGGACCGCTTGAGCTCAGGCAGTCAAGACTGCAGTTAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGATAGACCCCACCTCAAAAAAGAAAAGAAAGAAAGAAAAGAAACTTACAAGGACCTGGCAGACTACTGTGTCATCAGTGGGTGGGATCCTTATGAGCTTCTGCCTGGGGACAGTCGGCCTCGGGCCTTTTGTTGCTGCTGCTGGCTGGGTGGCCTTTCCCTTTTTTTTGAGATGCAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCACCCTCAGCCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGCCCAGGATGGTCTCGATCTCTCGACCTTGTGATCTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCGGTCTTTCCCTTCTCTGCACCTCGCTTCCACCTGCTGGAAACACTCTAAGTGGATGGTTTTATTGTCCCCATTTTGTGGATGAGGAAACTAAAGTTCACAGGGTCAACTGTCTGGCTCCAGGTCCCTGGGCCAGTTAGTGGCAGAGCCAGAGGTGAGCCCAGGGGTCTGACCCTACAGCCCTGGCACCTCCTTCATGGACCCCCTTCTTTCTTCTCCAACCAGTTTGACCTTGAAACTGACCATGGAGGCTGCCTGCCAAGACTTGCCCAGGATCCCTCACCTTACTGAGCACTTGCTCCATGCTGGACATGGTCAAGAGCCCCTCACACACCTTGTGTAACTCTCACCACATCGCTAAGGCTAAGGATGGTTTTGCCCATTTTGCAGATGCAGAGAAATGGCAGTCAGTGTTCCACTAGAGAAACAGAACCAGTAAGAGGTAGGAAGGTAGACAGATGGCCAACATACCTAGGAAAATTGACTTATGTGATGGTGAGGCTGGCTAAGCAGCTGAAACTCAGATAGGAGCAGACACCACAGCCCACAGGTGAAGTTCTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGTGGCCCAGGCTGGAGTGCAGTAGTGTGATTACAGCTCACTACAGCCTCCACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAGCCTCCCAAGTAGCCAGGACCACAGGTGCACACCACCATACCCAGCTAATTTTTGTTGTTTTTGTAGAGATGAGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTACTGGGCTCAAGCGCTTTGCCCGCGTTGGGCCCCCAAAGTGCTGGGACTACAGGTGTGAGCCACCTGGGCTGGCCACCAGTTCTGTTCTTAAGGCCTTTCAACCAATTGGATCGGTCCCACCCAGGTTGTCTAGGATACTCTCTTTTATGTAAAATCAACTGATATAGAATGTTAATCACATCTACAAAATACTTTCACAGACCAGCCTGGGCGACATAGTAAGACCCCATCTCTACAAAATTTTAAAAAATCAGCCGGGGGTGGTAATGAGTGCCTGGCAGGTCCAGCTACTCAGGAGGCTAAGGCAGGAGGATTGCCTACAACTGACCATTACAGTGGGCTCAGGTTAATTAGCTCTTAGCTCACCCGAGGTCCCAGTCACCAGGCCTTTGCAGCTTTTCTTCCTTTTTTTTTTTGAGATGGAATCTTGCTCTGTCACACAGGCTGTAGTGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGGCCTTGTGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCTTTGCAGGTTTTCACATCTTCTTTCCGACAACGAGAGCGACATGGTTGGAAAAGCATCAGCCTTGGGAGCAAGCGGCACTGGGTTCGAATCACTGCCCTGCCACTTACTCTCTCAGTGACCCTGGACAGATCACTTCTGTAGGGGTCCCCAGCTCCTCTGTAGAGTCGGGTGGGGCTGTGGGGGAAGGTCAGAGGGAGCCTGCATGGACCCTGGGTGCCCACCCGCAGGGGCCTCTGACTCCTCCTTCTTCCTGTGCTGAGTGTCTCTGTCCCCAGACCCATGATGATGGCTCTTTCTTGCCTCTGCCACCAG
Seq C2 exon
CAACATGAAGCTGCACTACAAGAGGGAGAAGCCACTCCAGCCCGTGGTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148288-GBGT1:NM_021996:3
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.032
Domain overlap (PFAM):
C1:
PF034148=Glyco_transf_6=FE(19.6=100)
A:
NA
C2:
PF034148=Glyco_transf_6=FE(15.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)