Special

HsaINT0137415 @ hg19

Intron Retention

Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor (GEF) 4 [Source:HGNC Symbol;Acc:16626]
Coordinates
chr2:173830290-173832172:+
Coord C1 exon
chr2:173830290-173830411
Coord A exon
chr2:173830412-173831988
Coord C2 exon
chr2:173831989-173832172
Length
1577 bp
Sequences
Splice sites
5' ss Seq
ACGGTAAGA
5' ss Score
10.65
3' ss Seq
TGCTTCCATGTTTCCCATAGTGG
3' ss Score
7.02
Exon sequences
Seq C1 exon
ACAATGCTGTGTGGGAACTGAACTGGTGGACTGGATGATGCAGCAGACACCATGTGTTCACTCCCGGACTCAAGCTGTTGGCATGTGGCAAGTCCTGTTAGAAGATGGTGTTCTCAACCACG
Seq A exon
GTAAGATGAGCCCCAGTCCCTGGAAACCTCTCAAGAAATGCTAAGTGCATTTCCCTGGGTAAGTAGTTGCTGAACTCTTGAATGGGCAAGAAAGAATTACGATCCCTTTAGGGACCTGCAGAGCTAGCATCTTCATTTAGCAATACAAATGCAGCAAGTAGATGCTATTGATTGCTATGTTCCACCATTGTACCTTCCTAACTTGGGAGAATGTATGAAAGGAAAATGAAATTGCAGCCCGAGTGCATCAGTTCCAATTATGTTTATTAGTTTGCATTCACGGTTCATTGATAGCGTGATTATACTCTGAGCAGTGCATAGCAATCCTGATGCAGGGGCAGAATGAAGAGCAGTGAAGTGTGTGGCTGGGCTGATGACATGAAAGTAAGTAATGAATTCGGAAGCTGCCTTTTAATTGTGCCGCTGTCTGGGAGAGCCAATTTGTATACCCACAGGATGACCATATTTAAAATCAAGAATGTGCTCTGCAATTGTGGCTCTTGATAACTGCAGGGGCTGTAATTGAACAGAGTAGCTCTTCAGGACTGGTGTGTAACTCTGGCCAAACTCTTATGCCATTTGTTTAAGACACTTCCAAACAGACAAAATATTAAAAACATTCATTTCATTTACCAACACCTGGGAATCTAGTAATGGTTTTGCCAGCGTTTCTCATACTTTAATGTGCATACATGTCACCTGGGACTCTTGTTAAAGTGCAGATTCTGATGTAGCTCGTCTGGAATGGACTTAGAGTCTGTATTTCCAACAAGTTCCCAGATGCTGCTGCTGCTGCTCCTCCAGGAATCGCCCTTTGAGCAGCAAGGGATCTACTGCTTGTCTTTACCTTTTGAGAGTATTGATGCTCCATCCTGAAAAGGGGCTCAAGGCTGTAAGACATGTACATGAGGGATTCTGAGCCACGTTCATTGTCTTTGTCCTACCGAGATTTAAATCCTGTTTAAAGGAACAAGAGGAAAAAACTTTAAGACATCAGATTTGGAAGAAAATTACCACAAAATCCTTCTAGCAGTATATGATCTAGAAACCTGGTCTGGTCAGCTTTGTTCAAACAACTAATTTTATACTAACATTTTTTTCCAGAGTGCAGACAGTACAGTTGATAAACAGTACATATAGAAAGAATAACATAAATTCTGATCCTGACAAGGCAGATTGTTTTCAAAGCCTGTACTTTCCAAAGCTGTGACAGAACATGACCTGGCAGTTGGTTCCTTTCCTGTTTGGGACACAGGTCCCACATCCTAGAAAATATCAGGAAGACGATTTCTGCAGGTCAAAGTGTTCATCTGAGAAATGCTGGCAGGTCCTCAAAGGGAGTCCCACAGAGGCCGAGGAGATGGGTGGGTCAGAGAGGGCTGTGGTGTGCATGACTGCAGCCCCGAGGTCATGTCTTCCAGCTGCACAGTCTGGGCAGGGCAGAGTGAGAAGGGCGAGGAGGCTCCCGGCTTTGCTGCCACTTGGCCCTCCTGCCTGACACTCTGCATTTGTTTCTAGTAAACGGAGCTGTGAGGCCGAGGTGCTGCAGCTGACACGTGCTTCCATGTTTCCCATAG
Seq C2 exon
TGGACCAGGAGCACCATTTCCAAGACAAATATTTATTCTATCGATTTCTGGATGATGAGCACGAGGATGCCCCTTTGCCTACTGAGGAGGAGAAGAAGGAGTGTGATGAGGAGCTCCAGGACACCATGCTGCTGCTGTCACAGATGGGCCCCGACGCCCACATGAGGATGATCCTTCGCAAACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428-RAPGEF4:NM_007023:9
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=0.226
Domain overlap (PFAM):

C1:
PF0061016=DEP=FE(57.7=100)
A:
NA
C2:
PF0061016=DEP=PD(21.1=24.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACAATGCTGTGTGGGAACTGA
R:
GATCATCCTCATGTGGGCGTC
Band lengths:
295-1872
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