Special

HsaINT1004766 @ hg38

Intron Retention

Gene
Description
atlastin GTPase 2 [Source:HGNC Symbol;Acc:HGNC:24047]
Coordinates
chr2:38295901-38298575:-
Coord C1 exon
chr2:38298144-38298575
Coord A exon
chr2:38296591-38298143
Coord C2 exon
chr2:38295901-38296590
Length
1553 bp
Sequences
Splice sites
5' ss Seq
CAGGTTGGT
5' ss Score
8.08
3' ss Seq
CAAATCACTTCATGTTTTAGGTG
3' ss Score
8.81
Exon sequences
Seq C1 exon
GTATGTGGAGGGGACAAGCCTTACATTGCACCTTCAGATCTGGAGCGAAAACACTTGGATCTCAAGGAAGTGGCGATAAAACAATTTCGTTCAGTAAAAAAGATGGGTGGAGATGAGTTCTGCCGTCGTTATCAGGACCAGCTTGAAGCTGAAATTGAAGAAACCTATGCAAATTTTATAAAGCACAATGATGGCAAAAATATCTTCTATGCTGCTCGTACCCCAGCCACACTGTTTGCGGTCATGTTTGCTATGTATATAATCTCAGGACTGACTGGCTTCATTGGCCTAAACTCTATAGCTGTCTTGTGTAACCTTGTCATGGGGTTAGCACTGATATTTCTTTGTACTTGGGCATATGTTAAATACTCTGGGGAGTTCAGAGAAATTGGAACAGTGATTGATCAGATTGCTGAAACACTATGGGAACAG
Seq A exon
GTTGGTATCTATCTTTTGGTTTTTTAGTGACTAATCTTATTTTCCTGTGACTTTCCATCCTTTGCAGTATTTGTACTCCGACTTTGCCTTCATGTGAGGAATGTCAAAAGGATGTCTTCTGTTTTGTTCAGATGTAGAATCTTTATGAATTGAAGATTTTTTCTTTAAAGTTATAATTTTAATGTACTTTGGTTAGCCTAAATCTGTACTATCCTCTGGATAGATTCTTAGTTGTAGGCCTGATTGTATCAGACGGTGGGCAGGGTCAGAGTCTGTAATGATTTTTTTCTTTGAGGAAAGAAAATATAAACAATGAATGATTTTCAAGGTAAGGAAAAGAAGTTTGGAAGTGGTGCTTTCGGAAAGCAAAAGAAGTTTCTTCCTAATATTGGCAAGCAGCAATGCAGGAGAAATGCTGGATGGTAGACAGGTCTTCATTGCCTTCCATGAAGATGGTAGTGATTTCCTGATGTACTATGAGGAACAATCCCGTAGGGATTTCTTACCAAGGAAACTTTGACCTTTGTGTTTTGGAAATATTAATTAGTAAAGCAAAGCGCCATGAACAGAGAACCATGCTCCGTCGTAATCTTTTACCTCGAACCAGAATTCAAAGCCCCAGGCTGTGAACTCTTGCCTGCAAGTATCTGCTAAGGAAAGCCATTTTGTGTATCTGCCTCCGGTGTGCTGGAATTACCTGTGGACCGCTTATGGATGTCATTAAGATGATCTTCGTGAAATACTTGAACATCATGTCAAGGACCAGAATGAAAGCTACGGTTATTAATGACGAACGCTATAATAGGCATTTGAGATGCCATTTTTGGGCTCATGAAATATTGAGCTTATTTTGAAGATCTAGGATATGCAGGTCCATGTTTGTTTTGGCTATAAACTTGAAGACCGAAGAAGCAGACCATTTTTTTTGAAGAAAGTTGATTGGATATTGACTTTTCTTGTAATGATGTTATTTTATAAAGTGACCCACTATATTAATTTGGATTTTGTGTTTACTCTTTAGAGAAATGCTCTATTCAGATCCGATTGGGAAGTTTATGTTTGGATATTTATTCTATTTAAATTTTTATCTCAATCTCACTACTTGATGTTTCTTTGATATCTTCTAATAGAAGATGGATGCAAAGCTATCGCAACTTCACTTTTAAGAAAAAATTAGCTATTTTAAAATTTTGGATCATTTTCTGCAATATAATTTTCAATAATTGTACAATATCTTCTTTTGAGAAATATTCATCTCTTAAACAGCATTGATTCTAGGATTTTGGAGGTACCATTATTACAAAACAATTAAATGGAAGAATCTAAAGTGTATAAAATCATTTTCAGTATAGTTTAGGTAAGGTAATCAGCTAGTCAGAGATCTGTGCTGTGTCAACAAACCTTGTCTAAATTTCTTTGCATTTCTCTTTTCTTTTGCTTCAGAGGAGTCCCAGGAAGGTGAGAAACCTACAGTCTCAAATTCTTGTAGTCTTAAACTCTTTAGCTTCGAGGCACTCTGATTCATTCTCCTAACAAATCACTTCATGTTTTAG
Seq C2 exon
GTGTTTTCCAAACTGTTTGAAGTTACTAGACGTCGAATGGTTCACCGTGCTCTTTCATCAGCACAGCGACAGAGACTGTCATCCAACAATAACAAGAAGAAAAATTAGACAGTATTTTTAACCTTTTTCTCTATCTGAAGTGTTCACACTTACACATGTAGGACAATAAGCAGGACCGTCTGGGCCGGTCTGCATAAATGCTGTATACATACCAGATTTGATGCTGCATATAGGGTATGGAATTGCACATCCATCTCATAGGAATTGTAAATGGTTTGAATAAGAGGAAAGTAATTTTTGTTGCATTATAAAATGTCTAGTAGCATCATAAGTTTTTTTGAGAGAAGCATCTTTTTATTTCCCATATTCCTGGTTATTTTCATCATTGCTTTGAATTGAATTTTTATATCTATTTTTATATGTAACTCTTTTTTTACCTCATGTTTTTGTTTGTTTTGCACATTTCTCATACCACAGGTATTGAAGCCCCTGGGTGATAATTTGATGGAGGAAAACATAAGGCAGTCTGTAACAAACTCTATCAAAGCAGGCCTGACTGACCAGGTGTCTCATCATGCCAGATTAAAGACAGACTGACAGTTCATCTCCTCACGGACTCCACTCTCTTTTTTTTTCATGCTTGCTGTACAATGAGAACTCAAATAAAAATAAACCAAAGTTTACAATCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119787:ENST00000419554:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.219
Domain overlap (PFAM):

C1:
PF028419=GBP_C=PD(55.0=50.0)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCAGGACTGACTGGCTTCA
R:
CCCAGACGGTCCTGCTTATTG
Band lengths:
354-1907
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains