Special

HsaINT0137368 @ hg38

Intron Retention

Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629]
Coordinates
chr12:47751916-47758078:-
Coord C1 exon
chr12:47757866-47758078
Coord A exon
chr12:47751970-47757865
Coord C2 exon
chr12:47751916-47751969
Length
5896 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
GCTTTCCCTGCTGCCCCCAGACA
3' ss Score
8.97
Exon sequences
Seq C1 exon
GTGGGCTGGCCAGGTGAGAGCTGCTGGCAGGTGGGCCTGGCTGTGGAGGATAGCCCAGCTCTGGGAGCACCGCGGGTGGGAGCCCTCCCTGACGTGGTGCCGGAGGGGACACTACTCAACATGGTGTTGAGAAGGATGCACCGGCCCCGAAGCTGCTCCTACCAGCTGCTGCTGGAGCACCAGCGTCCGAGCTGCATCCAGGGGCTGCGCTGG
Seq A exon
GTGAGTACCTTTCACCTGCCCAGGTGCCAGGGCCAGTACCAGAGCTAGAGGGGGGCCTAGATCATGGCTTGGCATGCTGCTGGTGGCCCAGCTTGCTCTGGGGGTGTACAGTGGTACAGCTGCCGTGGACACTGGGTCAGGAAGCTTGTCTGCAGTGTGCGTGGGTGGCTCACACAGCTGCAACGTGTGTGTGTCTGTGTGTGTGTTCTGCCCAAATGTCTCTGTTTGGGCATGGGGGGAAGGGGAAAGGGATTTGTTGTTTATCTGTCACCTCAGTGAGCCGGCATTGAGTTAGGTACTTGTGTGTTCTTTCCAGGTGGAGGTGGGAGGTATGGGGGCCGGGTCAATGGGTTGGAGTGAGGTAAGCTTGGTTACAGTTCTGGGTGCATCACCGTGGCAACATTCTCCTTTAGTGAGTTACTGAACTGTGCTAATTCTGCGTTTTGGTCTTAGGGTGAGGTGATCATGTGGACACTGCTTGGTACCTGCCTTTGGGGGGCTCAGGGAAGGATTCTGAGACATTTGGAGAATCTGAGATCACCAAAGTGCCCTTTGCTAGTGAGAAACATCTCTGGACCTGAAAGAATGAAGGAGAGAGCAGGGAGGGGAAAGAATGGTGGGATTTGGGAGGCAAGATAATGGCTGTACTATCCAAATCAGCAGAGAAGCTATCCCCAACCATCCAGACTAAATAGAGTAGCTTAGCTTGAGATTCAGTTATGTCTCCACTGCGTGTGTCCACCCAGGTTTCGCTATGTTGCCTAGGTAGGTCTTGAACTCCTAGGCCCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGCGTGACCCACTGCGCTTGGCCGGGAGAGTTCATTTCTTTTTTCTTTTCTTTCTTTTTTTTTTTTTTAACCAGAGTCTTCCTCTGTCACCAGGCTGGAGTGCAGTGAAGCAATCTTGGCTCACTACAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGGCTACAGGTGTGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTTGATCGCTTGACCTCGTGATCTGCCCACCTCGCCCTCCCAAAGCACTGGGATTACAAGCATGAGCCATTGCGCCTAGCCGAGAGTTCACTTCTTATTGGCAAGTCCTTTTGAGTGGAATAACCACCACCCTCTCCCTCCTTCCCCCTACCTTGCCCAACTGCCATTTACAGTGAGGCTGAGTTGAAAAAACTGAGACCTACCAAGATGAGGGGCTCCTCTTTGCAATCAGAATTGAGAGGAGAGTCCACATGTCAGTCCTGGTAGAGCTGTTCTCTACTAGGGTCTTCCTTATCATGAGCCTGGGTCCTCCTCCGCTACCCCTCTGGCTCTCCGGCTCTCCGCTCTCCGGGTCACTGGCTGTAGCTATTGCCTGGAGCCAGTGGGCTGGAACCCTCCCTCCCTCCTTCCCTCTTGGGCTATAATTATTTGTGCATTTCCTGTCCCCTTCCCAGCTTGTGGAAGCAAGGTAGGGGGTAGGGAGAAGGTCAGGTGCCAGGACAATAGGTCACTGGAGGATCTCCTGGGACCTGAAGTCTGGGAGGGAGTGGAGGAGGCCACCAAGCTGTCTCCTGACTCTCCACAGCCCCCAGAAATGAAGGGCTGGTGTGCAGGGGAAGGCCAGAAAGGTGGGGGTAAAGGTTGCTGGAGTGTAAATGGGGTCAAAGGCACCAAAACAAGGCCTTTCCGTGCCAGGTGGGCGTTGGTGACTAGAGGGAACTTAGATTTTTAGTGTTTAGAGGCAGGCGGCCACTCCCTCTTCTGATGACCAACTTTGGGGACTGGGGTGGGGAGGTTTCATTCCATCATGCCTATATTTGAGAGGCTCTGGGTACCTGTGAAGCTGTACTTCTTACCTCTTGATGATGCCTTTAGCCCAGGGAAGGCTTCCGTGAGGGAATGAGTGCCAGCTGTGAGCATGCACGCCCATGGTGAAGGGGTGGAGCCCGAGTCCCAGGAAGACAGCACTGCCAGTTATTGAGGCCAGACCTCCCTCTTCGAAAGCCAAGGGGAAAACCCATCAACCTCCCAGAGAAGAAGTCTGAAGACAGCTCTTTCTGTTCCTACCTAGACCAGGACAAGAGAAAATGAAAGCGGGTTACAGTAGGAGGGCTTGCAGTTAGATACAGACTAAGATAAGACTTAACAGCTATTGCAAAAGTGACACTGGAATGGGATGGAAGAACATCTTTGGAAAATAAGAGGGGGAGGTGAGATCTTGTCTGATGTCCGGGGGCAGGGGCAAGATCAGAGTGACCTGTGGTGGGTTCTACTAGCTCAGGGAAGTCTGAGATGATTCTCTTTGTGTGACTGTTCTTGGGGAAGTGGCCCTGTTTTGTAACTCCGAGAACGCACTTTCATTCAACCTATCCAAATAATAGTAGTAGTTAATAGTTATACAGTACTTATGTGCCAGACATTATTGAAAGAGGTTTGCCTTTATCATATCAAATAATTCTCACAACAGCCCTGTGAGATAGGTACTAATGTCATCATCTCCATTTTATAGATGTGAAAACAAAGCCACAGAGAGGTTAAGTGACAGATTCAGAGTTACGCAGCTGCTAAGTGGCAAAGCTGGGCTTTGGTCCCAGGCAATCTGGCTGCAGAGTCCAAGCTCATAACCACATAACCACCATGCTGCACTTCTCTCTTGCTACGAACAGTAACACTGACACCTTAAGGCATCATCCCGGCCCCATGCACCCTTCCCCTGTCCCACCACAAGCAGCCCTAGCTTGACACCTTAGCTATGGCCCAAGGGAACTGGTCTGACAGGTCCCCAGGCTGTCTGGCTCTGTGCCTGTCTCTCCAGCCCAGCTCTGACATTCAGTGACAGGGAGTGAGGGTGGGGCAGGCCACAGTGCTGGTGCCAGGGGAGTTAGTGCCTCCTCTTCCGCCCTGAACCCTTTCTGTTCAGGAATGAGAGTGGGGAGTGGGTGAGGAGGACCTTCACCTTGACTCATATCAGCTGCTTCTTCCCAACTGAGAACCCTGAAACTGACATGACTAGCATTGTATTTTTTTGCACTGTGTCCTGGTAATAGGGCCCATCATGAAATAATAACATCTGATCAAGTCAACTAAACTTACTAAGTAGTTACTATGATCCAGGCACCATTCCAAGTACTTTATATTATTAACTTTTTGATCCTCATAACCCTTTGTGATAGGTACTATTCATATCATCAACCCCAGTTTACAGATGAGGAAACCGAAGCACTGCAAACTTCAGTAATCAGCACGAGCTCACACAACCAGATGGTAACGCAAAAGCTAGGATTTGAACCCAAGCATCTGGCTGCAGAGCCTACACACTTGACCACTGCCCTTGAATAGCAGCCCTCTCTCCGCCCCATCCTAGAAGGTTGGCAGGCACACAAACATCCTGGGGGCACAGAGAGGGTAGAATAACAAACCTGTCTATCTTTGTCTAACCCAGTGGTTTCCAAACTTACTTGCCCACAGAACTTGCCTGAAGGCAGAATACCTCTACTGTCTGTGCCTATAGCACAAAGCTGAGGAAACATGGGAATAGGCATAATGGAAGACGGTAGGGCATAATGCTAAGAGCATGGCCTTTGGAATCAGACATAGGTATGAATCCTGGTGCCCTTATTGACCAACAGTTAGGGCAGGTTATAGAACCTTGGAGCTTTCTTTTCTCTAGCTGTGAAATAGGAAACAAATACCTACCTCTGGGGTCAGCACCAGTAGCAGAGTTATTCAGTAGAATCTTACCTTTCTAAATAGTTGTGTGATCTCTCTGGGCTTTTGCTTTCCTTGTCAAAATGAGAGGGATTCCTTAAAGTCCCTTCCTCAGTGCTCATGGACTAGGGCCATTCTCTGACCTGCATCCTCATCCCCTGGGGGAGGACAGGAAATGACCAACCTGGCCACGTGACCCAGCACCACCCCTCCTAATGTGCCCTCTCCCAAGTCAGAATAATACCAGGAAGGGGGCTGGTGCTGGAGCCTGGGTTGTGGGCTCCAATGGGAGTTGGGGCAGGGACTGGGGCCACCTGGGCATTTTGATATGAACAACAAGTCATTAGCACTCAGGCACTGTTTGTTCCGACACAGGGGGCTGGCTGGGTAGCATTCCTGCCCTTCCTCCCTTCCCTGGCTCCTCCTCCTTCTCATTTCCTGTCGTTAAGTCTCCAGGGCTCTGTGTCTGGCACTGGGCTGGGCCCCATGACCCGGGCAGGGATACCCTTGGGACACCTAGTGACTTCCGCCCAGCCCTGGGCCAGGCGCCTGCACATGCCAGACCTCAGGCCTCTGCTTGGGCACGCAGTGCCAAGATGCCTGTGCCCAGGGCCCTGCCAGCACCAGGACTGGTTGTACTGCAACTCCCCAGCAGGTCCTTTTCAGGGACCTGAAGCCAGATGGGAAGCTAGGAGAGAGGTGGCTGGTGAGGGGAGAGGAAAGGGGCAGGTGGGGTGGGTGTAGGGAGACTGAGAATGGGAGCACTTCTGGGTGGGAACTTGAACTTCTCCACAGCTGTCTGGCTGTCCGAAGTATGCGCAACTGAGTTACACAAGGTACCTCACCTCCAGGCTTTTATTTCCTTGTAAGTGACAGAGGACAGACAATGCCTGCTCTGCCTATTTCACATCTGATCCTATTTTACATGAGATCCAATGAAATCAAGGGGGCGATTGTGCTTTGTAAACTGTAAAGTGCTTTGTAAACTGTAAAGTGAGCCCTTTGAGAGGGCTCGTAGATGGTAGAGCATCCTGTCCAGAGATGTCCACAAACCCCAGATTCTCAGGTGGTAGGAAGAGAAGGGTCGTGAGGGGCTTTCATGGCCATTATTCCAGGGCGTACAGGCCCGGGAGTTCCAAATGGCTTGTTACCAAGGGCAGGGAATCCTTACTAAGCAGTGTTTCCATGATAAAGTGCGTCTTCCTGAGCCAGTCCTGTGTGCCACCAAGGACTTATTCACTCTCGCAGGGCACAGGCTAGCAACATCTCAGAGAAGAAAGACGCTTTCCAGCAAGCAGCCCCACCCTAATGCCTCACAGATGAGTACTAGCTAACATGTGCATACAACTATATGCCAGGCAATGCTTTAAACATTCGATGTGTAGCAACTCATTTAATTCTCCCAAAACCTCATGAGTCGGTATTATTAGTGCTTTGTAGATTTTACAGTTCAGGAGACTCAGGTAGGGAGGGAGAGGTTAAATCATTTGTTTCAGGTCACATCTGCCATCAGTGGGGAAGCAGAGATTTTAATCCAGGAGCCTGGCTCCAGGGTTTGTGTTTTGACAACCAGGCTGATCCGAGGCCCAGAGATGGCAAGACACCTGCTCATGGGCCTGTGGAAGGACACAGAACCTGGCTGGGGATCAGGTCTGTGACCCCAGCCCAGGAGCGGATGTTCCCAGGCCTCCTGAGCTGCTCACATCCTGGCTCCCATCTCCCAGGTCTTCTTATCTCATGTCCTCATGCTCCTTCCAGCTCCCTCACTTCTTTCCCCCAACAGGGGCAGTTCACCTGGGGGCATGGGCACACCTGGGCCCTGAGTAAGCAGAATGGGTGTCTTAGGGCTCTCAACTGTAGGGAGGCAGTCCTTGAGTTGGGTTTGGTGATCAGGATGGCAGGGTGGGAAGAGGCGATGCCCGGGGCACAGGGTGCTGAGTGAATATTTGTTTATTTGCTGAAGGAGTGGCCACATGGATGCATTTGGGGTTGGGGCCTAGGCAAGAGTGGGAGTGATGGGGGAGGGGAGGTATCCAAGAGCTGGGCTTGAAGACCTCACACTGATGTGCACGCTTTCCCTGCTGCCCCCAG
Seq C2 exon
ACACCACTCACCAACAGCGAGGAGTCCCTGGATTTCAGCGAGAGCCTGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337:ENST00000449771:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.022 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
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