RTN4IP1 (reticulon 4 interacting protein 1) - Rat Genome Database
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Gene: RTN4IP1 (reticulon 4 interacting protein 1) Homo sapiens
Analyze
Symbol: RTN4IP1
Name: reticulon 4 interacting protein 1
RGD ID: 1348834
HGNC Page HGNC
Description: Predicted to have oxidoreductase activity and zinc ion binding activity. Predicted to be involved in regulation of dendrite development. Localizes to mitochondrial outer membrane. Implicated in optic atrophy 10.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MGC12934; NIMP; NOGO-interacting mitochondrial protein; OPA10; reticulon-4-interacting protein 1, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC233290.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6106,570,771 - 106,629,498 (-)EnsemblGRCh38hg38GRCh38
GRCh386106,559,237 - 106,630,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376107,018,646 - 107,078,366 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366107,125,596 - 107,184,066 (-)NCBINCBI36hg18NCBI36
Build 346107,126,544 - 107,184,045NCBI
Celera6107,639,823 - 107,698,287 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6104,465,727 - 104,524,482 (-)NCBIHuRef
CHM1_16107,280,912 - 107,341,130 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12067236   PMID:12160746   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:16189514   PMID:20379614   PMID:20877624   PMID:21516116   PMID:21873635   PMID:23393170  
PMID:25416956   PMID:26186194   PMID:26496610   PMID:26593267   PMID:27499296   PMID:28514442   PMID:29181510   PMID:29395067   PMID:29568061   PMID:29892012   PMID:31056398   PMID:31515488  
PMID:31617661   PMID:32296183   PMID:32877691  


Genomics

Comparative Map Data
RTN4IP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6106,570,771 - 106,629,498 (-)EnsemblGRCh38hg38GRCh38
GRCh386106,559,237 - 106,630,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376107,018,646 - 107,078,366 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366107,125,596 - 107,184,066 (-)NCBINCBI36hg18NCBI36
Build 346107,126,544 - 107,184,045NCBI
Celera6107,639,823 - 107,698,287 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6104,465,727 - 104,524,482 (-)NCBIHuRef
CHM1_16107,280,912 - 107,341,130 (-)NCBICHM1_1
Rtn4ip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391043,777,772 - 43,823,860 (+)NCBIGRCm39mm39
GRCm39 Ensembl1043,777,803 - 43,833,197 (+)Ensembl
GRCm381043,901,807 - 43,947,863 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1043,901,807 - 43,957,201 (+)EnsemblGRCm38mm10GRCm38
MGSCv371043,621,613 - 43,667,668 (+)NCBIGRCm37mm9NCBIm37
MGSCv361043,590,222 - 43,636,277 (+)NCBImm8
Celera1044,773,738 - 44,819,793 (+)NCBICelera
Cytogenetic Map10B2NCBI
cM Map1023.12NCBI
Rtn4ip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22047,382,251 - 47,422,747 (+)NCBI
Rnor_6.0 Ensembl2048,881,194 - 48,925,081 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02048,881,124 - 48,924,921 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02050,523,639 - 50,566,520 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42047,818,499 - 47,857,762 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2052,570,670 - 52,611,426 (-)NCBICelera
Cytogenetic Map20q13NCBI
Rtn4ip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541131,902,848 - 31,950,645 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541131,902,848 - 31,950,645 (-)NCBIChiLan1.0ChiLan1.0
RTN4IP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16108,258,745 - 108,316,191 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6108,258,745 - 108,315,214 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06104,368,222 - 104,444,583 (-)NCBIMhudiblu_PPA_v0panPan3
RTN4IP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11263,926,803 - 63,972,417 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1263,926,799 - 63,972,369 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1263,714,058 - 63,759,670 (-)NCBI
ROS_Cfam_1.01264,770,070 - 64,815,694 (-)NCBI
UMICH_Zoey_3.11264,131,057 - 64,176,626 (-)NCBI
UNSW_CanFamBas_1.01263,973,679 - 64,019,259 (-)NCBI
UU_Cfam_GSD_1.01264,247,452 - 64,293,044 (-)NCBI
Rtn4ip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440494698,829,816 - 98,874,266 (-)NCBI
SpeTri2.0NW_0049365643,104,652 - 3,149,100 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RTN4IP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl172,762,840 - 72,815,540 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1172,763,453 - 72,816,450 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2182,062,555 - 82,112,789 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RTN4IP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11367,188,707 - 67,243,288 (+)NCBI
ChlSab1.1 Ensembl1367,189,318 - 67,243,925 (+)Ensembl
Rtn4ip1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478015,606,146 - 15,705,320 (+)NCBI

Position Markers
RH120076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376107,078,139 - 107,078,350UniSTSGRCh37
Build 366107,184,832 - 107,185,043RGDNCBI36
Celera6107,699,053 - 107,699,264RGD
Cytogenetic Map6q21UniSTS
HuRef6104,525,248 - 104,525,459UniSTS
TNG Radiation Hybrid Map651673.0UniSTS
D17S1152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,302,422 - 3,302,681UniSTSGRCh37
Build 36173,249,172 - 3,249,431RGDNCBI36
Celera173,316,145 - 3,316,428RGD
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q21UniSTS
HuRef173,194,921 - 3,195,212UniSTS
HuRef6104,510,766 - 104,511,107UniSTS
L30021  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map2q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map6q21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:773
Count of miRNA genes:417
Interacting mature miRNAs:439
Transcripts:ENST00000369063, ENST00000493619, ENST00000498091, ENST00000539449
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 251 248 240 46 675 42 558 511 308 138 455 338 16 306 2
Low 2188 2637 1485 577 1186 422 3797 1670 3422 281 1004 1274 159 1 1202 2481 3 2
Below cutoff 106 1 1 90 1 2 16 4 1 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A52373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF336861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF439711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY063761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE894352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ936729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369063   ⟹   ENSP00000358059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6106,570,771 - 106,629,498 (-)Ensembl
RefSeq Acc Id: ENST00000493619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6106,571,977 - 106,572,411 (-)Ensembl
RefSeq Acc Id: ENST00000498091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6106,571,975 - 106,583,631 (-)Ensembl
RefSeq Acc Id: ENST00000539449   ⟹   ENSP00000444261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6106,572,003 - 106,629,021 (-)Ensembl
RefSeq Acc Id: NM_001318746   ⟹   NP_001305675
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386106,570,771 - 106,630,491 (-)NCBI
CHM1_16107,280,912 - 107,341,130 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032730   ⟹   NP_116119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386106,570,771 - 106,629,498 (-)NCBI
GRCh376107,018,903 - 107,077,373 (-)RGD
Build 366107,125,596 - 107,184,066 (-)NCBI Archive
Celera6107,639,823 - 107,698,287 (-)RGD
HuRef6104,465,727 - 104,524,482 (-)ENTREZGENE
CHM1_16107,280,912 - 107,340,137 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536192   ⟹   XP_011534494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386106,571,975 - 106,630,921 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011376   ⟹   XP_016866865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386106,571,975 - 106,629,431 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001743693
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386106,559,237 - 106,630,317 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_116119   ⟸   NM_032730
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8WWV3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534494   ⟸   XM_011536192
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001305675   ⟸   NM_001318746
- Peptide Label: isoform 2
- UniProtKB: Q8WWV3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866865   ⟸   XM_017011376
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000444261   ⟸   ENST00000539449
RefSeq Acc Id: ENSP00000358059   ⟸   ENST00000369063
Protein Domains
PKS_ER

Promoters
RGD ID:7208809
Promoter ID:EPDNEW_H10151
Type:initiation region
Name:RTN4IP1_1
Description:reticulon 4 interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386106,629,490 - 106,629,550EPDNEW
RGD ID:6804756
Promoter ID:HG_KWN:54506
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032730,   OTTHUMT00000041667,   OTTHUMT00000041668,   UC003PRL.1,   UC010KDD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366107,184,026 - 107,184,632 (-)MPROMDB
RGD ID:6804754
Promoter ID:HG_KWN:54507
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC003PRK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366107,184,804 - 107,185,304 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21(chr6:106143607-106716817)x3 copy number gain See cases [RCV000053366] Chr6:106143607..106716817 [GRCh38]
Chr6:106591482..107143252 [GRCh37]
Chr6:106698175..107271385 [NCBI36]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His) single nucleotide variant Optic atrophy 10 with or without ataxia, mental retardation, and seizures [RCV000203278] Chr6:106622936 [GRCh38]
Chr6:107070811 [GRCh37]
Chr6:6q21
pathogenic
NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter) single nucleotide variant Optic atrophy 10 with or without ataxia, mental retardation, and seizures [RCV000203281] Chr6:106619221 [GRCh38]
Chr6:107067096 [GRCh37]
Chr6:6q21
pathogenic
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q21(chr6:105922825-106683920)x3 copy number gain See cases [RCV000143107] Chr6:105922825..106683920 [GRCh38]
Chr6:106370700..107131795 [GRCh37]
Chr6:106477393..107238488 [NCBI36]
Chr6:6q21
uncertain significance
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
GRCh38/hg38 6q21(chr6:105833853-106582592)x3 copy number gain See cases [RCV000143257] Chr6:105833853..106582592 [GRCh38]
Chr6:106281728..107030467 [GRCh37]
Chr6:106388421..107137160 [NCBI36]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:106281728-107019722)x3 copy number gain See cases [RCV000240329] Chr6:106281728..107019722 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.118_119insTTA (p.Ser40_Thr41insIle) insertion not provided [RCV000585044] Chr6:106628903..106628904 [GRCh38]
Chr6:107076778..107076779 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.685G>T (p.Asp229Tyr) single nucleotide variant not provided [RCV000585573] Chr6:106592285 [GRCh38]
Chr6:107040160 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:105930050-107970442)x1 copy number loss See cases [RCV000446119] Chr6:105930050..107970442 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6q21(chr6:106394584-107635657)x1 copy number loss See cases [RCV000445829] Chr6:106394584..107635657 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:105550491-107378236)x1 copy number loss See cases [RCV000448307] Chr6:105550491..107378236 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 copy number loss See cases [RCV000510703] Chr6:97384446..110247755 [GRCh37]
Chr6:6q16.1-21
pathogenic
NM_032730.5(RTN4IP1):c.269T>C (p.Met90Thr) single nucleotide variant not provided [RCV000512934] Chr6:106628753 [GRCh38]
Chr6:107076628 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21
pathogenic
NM_032730.5(RTN4IP1):c.538T>C (p.Ser180Pro) single nucleotide variant not provided [RCV000513612] Chr6:106619284 [GRCh38]
Chr6:107067159 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_032730.5(RTN4IP1):c.731T>C (p.Val244Ala) single nucleotide variant not provided [RCV000762427] Chr6:106592239 [GRCh38]
Chr6:107040114 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.375C>G (p.Gly125=) single nucleotide variant not provided [RCV000879443] Chr6:106622869 [GRCh38]
Chr6:107070744 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.714A>G (p.Gln238=) single nucleotide variant not provided [RCV000877657] Chr6:106592256 [GRCh38]
Chr6:107040131 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.620+9A>G single nucleotide variant not provided [RCV000951030] Chr6:106619193 [GRCh38]
Chr6:107067068 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.313C>T (p.Pro105Ser) single nucleotide variant Optic atrophy 10 with or without ataxia, mental retardation, and seizures [RCV000995626] Chr6:106622931 [GRCh38]
Chr6:107070806 [GRCh37]
Chr6:6q21
likely pathogenic
NM_032730.5(RTN4IP1):c.587del (p.Gly196fs) deletion not provided [RCV001047113] Chr6:106619235 [GRCh38]
Chr6:107067110 [GRCh37]
Chr6:6q21
pathogenic
NM_032730.5(RTN4IP1):c.399T>A (p.Asp133Glu) single nucleotide variant not provided [RCV001066120] Chr6:106622845 [GRCh38]
Chr6:107070720 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.1086C>T (p.Ile362=) single nucleotide variant not provided [RCV000945631] Chr6:106572101 [GRCh38]
Chr6:107019976 [GRCh37]
Chr6:6q21
benign
NM_032730.5(RTN4IP1):c.897T>C (p.Thr299=) single nucleotide variant not provided [RCV000873864] Chr6:106587772 [GRCh38]
Chr6:107035647 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.1094T>C (p.Val365Ala) single nucleotide variant not provided [RCV000873876] Chr6:106572093 [GRCh38]
Chr6:107019968 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.375C>T (p.Gly125=) single nucleotide variant not provided [RCV000873917] Chr6:106622869 [GRCh38]
Chr6:107070744 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.275-11_275-10del deletion not provided [RCV000876095] Chr6:106622979..106622980 [GRCh38]
Chr6:107070854..107070855 [GRCh37]
Chr6:6q21
benign
NM_032730.5(RTN4IP1):c.962G>C (p.Gly321Ala) single nucleotide variant not provided [RCV001090676] Chr6:106587707 [GRCh38]
Chr6:107035582 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.107_115del (p.Thr36_Pro38del) deletion not provided [RCV001054669] Chr6:106628907..106628915 [GRCh38]
Chr6:107076782..107076790 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.645C>T (p.Gly215=) single nucleotide variant not provided [RCV000876467] Chr6:106602898 [GRCh38]
Chr6:107050773 [GRCh37]
Chr6:6q21
benign
NM_032730.5(RTN4IP1):c.733A>G (p.Arg245Gly) single nucleotide variant not provided [RCV001090677] Chr6:106592237 [GRCh38]
Chr6:107040112 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.130C>T (p.Pro44Ser) single nucleotide variant not provided [RCV000998663] Chr6:106628892 [GRCh38]
Chr6:107076767 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.104_105delinsGA (p.Thr35Arg) indel not provided [RCV001054668] Chr6:106628917..106628918 [GRCh38]
Chr6:107076792..107076793 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:106877325-107082724)x1 copy number loss not provided [RCV000848660] Chr6:106877325..107082724 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.670-5G>A single nucleotide variant not provided [RCV001228539] Chr6:106592305 [GRCh38]
Chr6:107040180 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.745G>A (p.Ala249Thr) single nucleotide variant not provided [RCV000998662] Chr6:106592225 [GRCh38]
Chr6:107040100 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.1154G>A (p.Gly385Glu) single nucleotide variant not provided [RCV001240905] Chr6:106572033 [GRCh38]
Chr6:107019908 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.890A>G (p.Tyr297Cys) single nucleotide variant not provided [RCV001227218] Chr6:106587779 [GRCh38]
Chr6:107035654 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.52del (p.Cys18fs) deletion not provided [RCV001227219] Chr6:106628970 [GRCh38]
Chr6:107076845 [GRCh37]
Chr6:6q21
pathogenic
Single allele deletion Global developmental delay [RCV001171638] Chr6:106539151..106629957 [GRCh38]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.335G>A (p.Gly112Glu) single nucleotide variant not provided [RCV000983895] Chr6:106622909 [GRCh38]
Chr6:107070784 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.130C>A (p.Pro44Thr) single nucleotide variant not provided [RCV000952096] Chr6:106628892 [GRCh38]
Chr6:107076767 [GRCh37]
Chr6:6q21
benign
NM_032730.5(RTN4IP1):c.637G>A (p.Ala213Thr) single nucleotide variant not provided [RCV001226554] Chr6:106602906 [GRCh38]
Chr6:107050781 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.674T>C (p.Met225Thr) single nucleotide variant not provided [RCV001239455] Chr6:106592296 [GRCh38]
Chr6:107040171 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.233T>G (p.Val78Gly) single nucleotide variant not provided [RCV001230542] Chr6:106628789 [GRCh38]
Chr6:107076664 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.415C>T (p.Pro139Ser) single nucleotide variant not provided [RCV001208415] Chr6:106622829 [GRCh38]
Chr6:107070704 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.550G>A (p.Val184Met) single nucleotide variant not provided [RCV001227477] Chr6:106619272 [GRCh38]
Chr6:107067147 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.47C>T (p.Ala16Val) single nucleotide variant not provided [RCV001244073] Chr6:106628975 [GRCh38]
Chr6:107076850 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala) single nucleotide variant Global developmental delay [RCV001263349] Chr6:106629017 [GRCh38]
Chr6:107076892 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.16A>T (p.Thr6Ser) single nucleotide variant not provided [RCV001055310] Chr6:106629006 [GRCh38]
Chr6:107076881 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:106814261-107222454)x3 copy number gain not provided [RCV001007556] Chr6:106814261..107222454 [GRCh37]
Chr6:6q21
likely benign
NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly) single nucleotide variant Global developmental delay [RCV001171498] Chr6:106628759 [GRCh38]
Chr6:107076634 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.138G>A (p.Trp46Ter) single nucleotide variant not provided [RCV001213920] Chr6:106628884 [GRCh38]
Chr6:107076759 [GRCh37]
Chr6:6q21
pathogenic
NM_032730.5(RTN4IP1):c.1031T>C (p.Met344Thr) single nucleotide variant not provided [RCV001206118] Chr6:106583380 [GRCh38]
Chr6:107031255 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.835G>A (p.Gly279Arg) single nucleotide variant not provided [RCV001069813] Chr6:106587834 [GRCh38]
Chr6:107035709 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.307C>T (p.Arg103Cys) single nucleotide variant not provided [RCV001041294] Chr6:106622937 [GRCh38]
Chr6:107070812 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.1083+2T>C single nucleotide variant not provided [RCV001042587] Chr6:106583326 [GRCh38]
Chr6:107031201 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.302T>G (p.Met101Arg) single nucleotide variant not provided [RCV001038550] Chr6:106622942 [GRCh38]
Chr6:107070817 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.1015C>T (p.Arg339Cys) single nucleotide variant not provided [RCV001234153] Chr6:106583396 [GRCh38]
Chr6:107031271 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:106638006-107421916)x3 copy number gain not provided [RCV001007555] Chr6:106638006..107421916 [GRCh37]
Chr6:6q21
uncertain significance
NM_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu) single nucleotide variant Global developmental delay [RCV001263348]|not provided [RCV001071972] Chr6:106628768 [GRCh38]
Chr6:107076643 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1
pathogenic
NM_032730.5(RTN4IP1):c.1084A>T (p.Ile362Phe) single nucleotide variant Inborn genetic diseases [RCV001266773] Chr6:106572103 [GRCh38]
Chr6:107019978 [GRCh37]
Chr6:6q21
likely pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18647 AgrOrtholog
COSMIC RTN4IP1 COSMIC
Ensembl Genes ENSG00000130347 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358059 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444261 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369063 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000539449 UniProtKB/TrEMBL
GTEx ENSG00000130347 GTEx
HGNC ID HGNC:18647 ENTREZGENE
Human Proteome Map RTN4IP1 Human Proteome Map
InterPro ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroES-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
  PKS_ER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quin_OxRdtase/zeta-crystal_CS UniProtKB/Swiss-Prot
  RTN4I1 UniProtKB/Swiss-Prot
KEGG Report hsa:84816 UniProtKB/Swiss-Prot
NCBI Gene 84816 ENTREZGENE
OMIM 610502 OMIM
  616732 OMIM
Pfam ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38619 PharmGKB
PROSITE QOR_ZETA_CRYSTAL UniProtKB/Swiss-Prot
SMART PKS_ER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot
UniProt G3V1R2_HUMAN UniProtKB/TrEMBL
  Q8WWV3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8N9B3 UniProtKB/Swiss-Prot
  Q8WZ66 UniProtKB/Swiss-Prot
  Q9BRA4 UniProtKB/Swiss-Prot