HsaINT0014163 @ hg19
Intron Retention
Gene
ENSG00000198513 | ATL1
Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:11231]
Coordinates
chr14:51089895-51095180:+
Coord C1 exon
chr14:51089895-51089966
Coord A exon
chr14:51089967-51094748
Coord C2 exon
chr14:51094749-51095180
Length
4782 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
3' ss Seq
TACTTCTCTATCTGATACAGATT
3' ss Score
6.75
Exon sequences
Seq C1 exon
GCCACAGCAGAAGCTAACAATTTAGCAGCCGTGGCAACTGCCAAGGACACATACAACAAAAAAATGGAAGAG
Seq A exon
GTAAGAGTTAAATATTTTAAATTCTGTCTTAAACAAAACCAGTATCCTTCATGCAACTCATTCTCTTTTTTCTTCCATGTTACACTGTACACACATGCAATGAGGTGGCTTTGACTTTTTCCTCAGCCTGTATCACGTCTATTTATTATATTCCTGAAATATTTTTAAAAACATTGTGTGCACAATTTTGAAGGCATTTTAAATGAATTGCCTCTCTCTGTAATATATCCCTATTCACATATTTGGGGGGAGCGCCAGGTCTTTCCACTATTTATAAAATCTAGTAGCCAAAATAGCATGTGGTACCCTCGCCACTACACCTCCTTATATTCCACAATTTTGGTATTTCTCTTAAAGATTAAACCTTTTAGGAAAAAAAAAACAAAAACCCTAAGGGCCATTATTTCTATTTATTACATTTCCTCATTTTAATACTCCAAATTAGGATGGATCTAATAATTATTGTGTATATGTACTACTGTGATAGATATTATTTTCTCTTGAAAATGTTATGAAATTAGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATTGCCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAATAACAAAAAAAAATTAGCCAGGCCTGATGGCACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGGTAATTGCTTGAAACAGGGAAGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGAATCTGTCTCAAAAAACAAAATGTTATGAAATTAAAATTGCGTTCAAATTGAAGTCTTAGAATGAAGGAAAATGTAGTATATGGAGTGGCATTATTTATAAGGACAATCAGAATGAAAGAATTCTCGATATAATTAAATCTCAAATGCAGGCATACATACCTCATTTTATTGAGCCTCACTTTCTTGCACTTTTTACAAATTGAAGTTTGGTGGCAACCCTATGTGAAGCAAGTCTATTGACGCCCTTTCTCCAACAGCAAGTGCTCACTTCATGCCTGTGTCACATTTTGGTAATTCTCACAATTTTTCAAACTTTTTCATTATTATTATATCTGTTATGGCAACCTGTGATCAGTGAGTGCTGATGTTACTATTGTAATTGTTTCAGAGTGCCATTAACTGTGCTGTTATAAGATGGTGAACTTAATCGATAAATGTGTTTTCTGACTGCTCCATCAACCAGCAGTTCCCCCATCCCTCCCTCTCTGCAGTCCTTTCTTTTACCTGAGGCACAACAATATTGAAAATAGGCCAATTAATAACCCCACAATGGCCTTTAAGTGTTGAAGTTCAAAGAGACACATCTCTCACTTTAAATCAAAAGCTAGAAATGACTAAGCTTAGTGAGGAAGGCATATGAAAAGCTGACATAGGCCAAAAGCTAGGCCTTTGCACCAATTAGTTAGCCAGGCTGTTGGATGCAAAGGAAGAGTTCTTAAAGGAAATTAAAAATGCAACTCCAGGCTGGGCCCAGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAGGCATGGTGGCACATGCCCATAGTCCCAGTTACTTGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCAAGATCGCACCACTGCACTGCACTCCAGCCTGGGGGACTGAGTGAGGCTCTGTCTGAAAAAAAAAAGAAAAAAAGTGTTACTCCAGTGAACACACAGATTATAAAAAAGTGAAACAGCTTTTTTGCTGACACAGAGAAAGCTTTAGTTTGGATAGAAAATCAAAACAGCCACAACATGCCCTTAAGCCAAAGCCTAATCCAGAGCAAGGCCCTAACTCTGTTCAATTCTATGAATGCTGAAAGAGTTGGTAAAGATGCAGAAGAAAAGTTGGAAGCTAGCAGAGGTTTTTGGTTCATGAGGTTTAAGAAGCCATCTCCGTAACATAAAGTGCAAGGTGAAGCAGCAAATCTTGATGTAGAAGCTACAGCAAGTTATCCAGAAGATCTACCTGAGATCATTGATGAAGGTGGCCACGGTAAACAGAGATTTTCAATATGGATGAAATAGTCTTCTATTGGAAGATGCCATCCAGGACTTTCCCAGCTAGAGAGGAGAGGTCAATGCCTGGCTTCAAAGCTTGGAAGAACAGGCTGACTTTCTTGTAGCTGGTGACTTTAAGTCGAACCCAGTGTTCATTTACCATTCCCCAAATTCTAGGCACTTAAGAATCATGCTAGGCCGGGCACGATGGCTCACACCTGCACTTTGGGAGGCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGATAGAGACCACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGAGGCGGGCACCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCAAGAGGCAGAGTTTGCAATGAGTCGAGATCACACCACCAGCCTGGGTGACAGAGTGAGACCCGTCTCAAAAAAAAAAAAGAAAAAAAAAATCATGCTATACCTACTCGTTTGTGCGCTATTAATGGAAGAACAAAGCCTATGTAACAGTACAGCTGTTTACAGCATGGGTTACTGAATACTTTAAGCCCACTGTTCAGACCTACAAAGAAAGATTCCTTTCAAAATATTACTGCTCGTTGGCAATGACCTTATTCATCAAAGAGCGCTGATGGAGATGTATTTAAGGAAATTAATGTTTTCATGCCTGCTAACACAATATCCATTCTACAGCCCAGGATCAAGGAGTAATTTTGACTTTCAAAAGTTAATAAGAAATACATTTTGTAAGGCTATAGCTGCCATAGATAGTGATTCTTTTGATGGATCTGGGCAAAGTACATTGAAAACCTTCCAGGAGAAATTCACCATTCTGGATGCCATGAAGAGAATCTGTGGTTTATAGGAGGCAAAAATATCAACAAGAATGTGGAAAAAGTTGATACCAACCCTTCTGGATGACTTTGAGAGGGGTCCAAGACTTCAGTGGAGGAAGGAAGTGCATGTGTGGTGCAAACAGCAAGAGAACTTAAAAGTGGAGCCTGAAGATGTGACTCAATTTTGTATTCTCTTAACGGATAAGGAGTTGCTTCCTATGGATAAGCAAAGACAGTGGTTTCTGGAGATGGAATCTACTCCTAGCGAAGATGCTGTGAACAGTGTTGAAATGACAACAAAGGGTTTAGAATATTTTTTATTGGTACATAATAGATGTACATATTTTTGGAGTACATATGATAAATTGATACATCCATATAATGTGTAAAGATCAAATCAGGGAAAGTGTGGTATTTATCACCTTAATATTTCTTTATGCTAGGAACATTCGAATTATTCTCTTCTGGCCATTTTGAAATGTACAGTAGATTATTGCTAATTACAGTCACCCTACTGAGCTATTGAACACTGTCTTATTTCTTCTAACTGCTTTATTTGTACCCATTAATCAACCTCTCTTCATCCCCTTCCCCCTACTCTTTTCCTTTCCAGGGCTTTAAAATATGAAATAAAGTTAGTTGATAAAGCATTGGCAGGGTTAGAGAGGATTGACTCCAATTTTTAAAGAAGTTCTACTATGAGTAAAATGCTGTCAAATGGCATCCCAGGCTACAGAGAAATCTTTCATGAAAGGAAGTCTATCAATATGGCAAACTTTACTGTTGTCATATTTTAAGAAATTGCCACAGCCACCTCAACCTTCAGCAACACCACCCTAATCAGTCAGCAGCCATCGACATCGAGGCAAGAGCCTCCACCAGCAAAAAGATTGATGTGCTGAAGGCTCAGATGATCCTTAGCATTTTTTGCAATAAAGTGTTCTTAAATTATGTACATGGTTTTTAGATATGCTACTGCACACTTTACTAGACTGCTACATAATGTAAACATAACTTTTATATGAATTAGGAAATAAAAAAAATCATGTGACTTGCTTATTGCAGTGGTCTGGAACCAAACATGTATTATCTCTGAGGCATGCCTGTAACCAAAGTGAATGGTATGGTTAACTGAGATTACCCTTGTAACTTTTCAAAAAATTGAAAATGTTATTCAAGAACATTTAATATACTCCTAACTTAGTTTCTGGAAGAAAATACTCAATTGGCTCCATTCAAATAAAAATCAGTAAAACTGCTAAAGAATGTATTTCACAGTTTACTTTGAGAGCTTTATAGCATTGATCATTGTTTATTAAACCTCATTGGTTAACATGACTTCAGTGTAGTTAGATTTCCTAGAATTTGGATATACGTAGTTTTCTTAGATTTGGATTCATTCTGTGAATGAACTCAGTTTGCACTTCATGTTGTGTCACACGTCTTTTCATCTTGAAGGACTTGGATTAAGTGATAAATATTATTTTCCATGTCAAAAAGAGAAAAATTTAAAATGATTTTAAGCCACCTATAAAATACCAGTCCCATTTATAGTCATGCCTCGTGGATAGGGGGTGGAAAGATGTGGGCTGACAAAACATATATGCAGGCTCCTGATTATTAACGTATTCTAACAAACTCAACTAGCTAAGTGAAAAATTTTGATACAGTTGCCAATTTTACTCTGCATTGCATAAACAAATACTTCTCTATCTGATACAG
Seq C2 exon
ATTTGTGGTGGTGACAAACCATTTCTGGCCCCAAATGACTTGCAGACCAAACACCTGCAACTTAAGGAAGAATCTGTGAAGCTATTCCGAGGGGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGTGAAATAGATGAACTTTACATCCAATATATCAAGCACAATGATAGCAAAAATATCTTCCATGCAGCTCGTACCCCAGCCACACTGTTTGTAGTCATCTTTATCACATATGTGATTGCTGGTGTGACTGGATTCATTGGTTTGGACATCATAGCTAGCCTATGCAATATGATAATGGGACTGACCCTTATCACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAGAATACCGAGAGCTGGGAGCTGTAATAGACCAGGTGGCTGCAGCTCTGTGGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198513-ATL1:NM_181598:11
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF028419=GBP_C=FE(18.0=100)
A:
NA
C2:
PF028419=GBP_C=PD(53.9=47.9),PF096855=Tic20=WD(100=54.9)
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
- 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)