Special

HsaINT0137473 @ hg19

Intron Retention

Gene
ENSG00000108352 | RAPGEFL1
Description
Rap guanine nucleotide exchange factor (GEF)-like 1 [Source:HGNC Symbol;Acc:17428]
Coordinates
chr17:38334242-38337946:+
Coord C1 exon
chr17:38334242-38334633
Coord A exon
chr17:38334634-38337867
Coord C2 exon
chr17:38337868-38337946
Length
3234 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
GTGCCCACTGATCTTTACAGATA
3' ss Score
7.08
Exon sequences
Seq C1 exon
GCGGCGGTCCAGCCGGGGGACAGCGGTCGTTGCAGCGGCGTCAGAGCGTGTCTCGCCTGCTGCTCCCCGCTTTCCTCCGGGAGCCCCCCGCCGAGCCGGGGCTGGAGCCGCCCCCTGAGAGGAAGGAGGAGAGCCGGCGGGGGTCGCGGAGGAGCCGGGCAGCGGGGGGCCCTGCTGGCTGCAGCTGGAGGAGGTGCCGGGGCCCGGGCCTCTCGGGGGAGGGGGGCCCCTGCGCTCCCCTTCCTCCTACTCATCTGACGAGCTGTCCCCAGGCGAGCCCTTGACTTCGCCGCCCTGGGCCCCTCTGGGCGCCCCCGAGCGGCCCGAGCATCTTCTGAACCGGGTTCTGGAGCGGCTTGCTGGAGGGGCTACCAGGGACAGCGCCGCCTCAG
Seq A exon
GTAAGGAGCCGGTGGGCTCGAACACCCAGAGCAGGGGCTGGCCCCGGCTCCTCTTCCTTGCCCTTGGAGCGTAGGGGTGGCGCCGTGCCGGGGCTTGGTTATAGGGTTGAGTGGTCCGCGGAAGCCGGCTAGGGGCCTAGCGGAGGTACAGACCCTCCCGCGGAAGAGGAGAGCAGTACTCACCTTCCTCCCTACAGCAGCCTCACCCTCGTCTGGAGAAGCAGCTGAGCCTCTTACTCTCCTTCAGCCACCCTTCCTTTCCCCTGGGCATTGGAGCCACTGACTCCCATGGGTCCCTGATGTTGAATACCTCCTCCTGTGGCCCCAAATTAGGGCCTGACACATTAAAATGGGAGCTGCCCAGCGCAGCCATGCCACCCGCCAGAGGTGCTTTAGCCCTGAAAACCCTGGGGTCCCTGACTGTTCAGAGGCCTACACAGCGCAGGCTGACCCACCCAGGGAGGCAGTGCCAGACAGGCACAGGCCCCAAGCTGCCTTTTAGGCATCAGCAAAGGGATGCGTTGTCCTTAGCAGTTTGGTGGGGGGGATAGTATTCTCCTTGGGCTGGACTCAGAAGGTGTCTGGGAGGGGAGAGGTGGCTGGGCCGGCATCATGGCCCTGCAGCATCCAGGGTGTCCAAGCGCCTCCAGCTTCCACCCTTCGGTGGCAGGCCTCAGCACCCGGCTTTTTTTTTTTTTTCTTTTGGAGATGTAGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCGCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGGCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGGGGTTTCACCAACTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTTATCTACCTCCCCCCACCCCCACCCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGGACCTGGCACACGGCCTCTTTAAAATATAATCACCACACCCTGAGAAGCTTATTCCCTAAATGATGATACTATTTCACCACTCCCTTTCAGCACCCCTACTAAGGGGCCTTTGAGGAAACCAAGGCCCCAAATCTGGTTAGTTCTGAGGTAGAAGACCGAGGGTTCTTTAGGTCTAGCTCTAGGCATTACTCTAAGCCCAGGAGGGTCTGAGGTTTGGGAGCCCCGGCTGAGGCCCTAATGGTGAGGGCTTTCACACTTGCTCTCAGCCCTCGGCAGGGAACCCCAACCTAGATGTGTGGAGGGGGGCTCCACTCTCCTAGATCCTTCTCAAGACCTGGGTCCTCTCCTTTGGAGCAGGCTGTAGTTGCCCTGGGGAGCTGACACCTTTTGGATTTAATTAGAAAAATATCAGACACACACAGCTCTCCTAACCATAACTTCCCGCCTACACCACACACCCTGTGTCTCTATGACACATTCCCTAGGGAGGCTGTACATTGGCCCAGAGCCTGCTTTGGAAAAGACAGATGCCCAACTGTGGCCCCCATATCAGCATCTCCCCAACTCTGCCCCATCTTACTCTTCCTTTGCTCCAGCTTAGGAATCCTGTGAGATAAAGTCTATGAAGGATGTCAGGCCTCTCGTTTCCTCACCCTCATCCCTGAAGCTGGGGGTCAGAGCTGGAGGCTCTCTGACTCATTGTAAGAACACAGCAGGGTAGCTGGGCAGGGAGGAAAAGGGAGAAGCTGTCTTTCCCCTTTTACAGGGGCCTGGTGCCACACGCTCCGCTCATTCTCCCCTGGGGTAAGACTCCTGAAATGTCACCCATGTTATCTGGCAGCCTGGATCCCCAGAGTAACTAGTTTGGGAAATTCCAAACCAGTCCCAGGTGAATGAGAATCAGCTTAACCTGCCACTCTGATGTTCTCCAATAAAACCAATGTTCTCAAGTCATCCTGGTCTCCTCCCAGGGTGTGTGGGAGGAGAGAACTTACAGAAGTTACTCTGAACCTACCAAAGCCTCTCCAACGTCCAAGCAGCCCCCTCTGACCGCTAGGTTTTACCCTAACACTCTGCTTGCCTCAGGCATATTGAGAAAAGGACAAAGACTCAGGATTCTGGGTTCTTATTCCAGCTCCAGGCAAGTCCCTCCCAGCTCTGGGCCTCAGTTTCACATTTGCGAAATGAAATCCTTGAAGTCAATTACTTTGTGTTGGTTTTCCTCCTCCGCCTGCATGGCTAGAACTGACCACAGGAGATAGTGAACCAAGGGGAGTCAGAAGCCTTGGTTTTGTCCTGGGACAGTGCCTGGGGACCTGGCCCTAACCAGTCCTGGTGAGGACACCTGGCTCCCTCCCTGCACCTTGTCTGTCTGTGTGTGCCAGGTGGCCCTGCCCCACCCCAGGGCTGGCTGCAAGTCAGGGCGACCTTGTACCCGGCTGACTGGCTGAGCCAGGCCCAGACGGGGGTGTGGAGGGGAAAGGGGTGGTGAGAGGAGCCGCTCCCCTTCACCATTCCATCATTAACCCTTCTGTCTCTGGGCCCCTAAAGGACACAGGATTTCTATTTAAAGGTTCTGGGATCAAAGTGATGGCAGTCTCTCCATCTCCCTTTTAATCAGGCTGGTTCCCACCTGCCTAGTTAGAACTCAAAGCTGTTAGGTGGGAAATGGGGAGGGGAAGAGGGATACACACACATGCACACACACAGTCCCCACTGATGCTAACCTCTGTGTTTGGAAATACTCTTTGTCTGGAGACACTTCTGTGGGCTACTTCTTTTTTCAGGCAGAACTCAACCTTGGTGTGTTATCTGACCAACTTCCCACATACGCTGAAGAGAAGTGCACATGGCCATCAAAGGCACGCGCCCCCCCCTTCCCTTCAGCTGCCTTGGCAGCTGCCGAACCCACCCTCGCAGTGGCTGCCCAGAACCTTTACACATGTATGTGTGCGCGTGTGCAGAGCATGACAAGGCAGGTGGCTGGGGCTCCAGCCTGGCTAAAGAGAACTTGCCCTTAGGGGCAAGAGAGGGAGGCACTGCATTTCCAGTTTCGTTCTGGAAGTGCCCACCTGACATCTGTGGTGCCCACTGATCTTTACAG
Seq C2 exon
ATATCCTGCTGGATGACATTGTCCTTACCCATTCTCTCTTCCTCCCGACGGAGAAATTTCTGCAGGAGCTACACCAGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108352-RAPGEFL1:NM_016339:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.877 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NA
A:
NA
C2:
PF0061815=RasGEF_N=FE(42.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping 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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development