ARHGEF16 (Rho guanine nucleotide exchange factor 16) - Rat Genome Database

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Gene: ARHGEF16 (Rho guanine nucleotide exchange factor 16) Homo sapiens
Analyze
Symbol: ARHGEF16
Name: Rho guanine nucleotide exchange factor 16
RGD ID: 1347062
HGNC Page HGNC
Description: Exhibits PDZ domain binding activity; enzyme binding activity; and guanyl-nucleotide exchange factor activity. Involved in activation of GTPase activity; cell chemotaxis; and positive regulation of protein localization to plasma membrane. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ephexin-4; ephexin4; GEF16; NBR; Rho guanine exchange factor (GEF) 16; Rho guanine nucleotide exchange factor (GEF) 16
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl13,454,665 - 3,481,113 (+)EnsemblGRCh38hg38GRCh38
GRCh3813,454,589 - 3,481,115 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713,371,229 - 3,397,677 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613,369,982 - 3,387,537 (+)NCBINCBI36hg18NCBI36
Build 3413,403,278 - 3,420,832NCBI
Celera12,624,447 - 2,650,733 (+)NCBI
Cytogenetic Map1p36.32NCBI
HuRef12,663,841 - 2,692,412 (+)NCBIHuRef
CHM1_113,357,218 - 3,384,706 (+)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

Cellular Component
cytosol  (TAS)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11756498   PMID:12376548   PMID:12477932   PMID:12787561   PMID:14702039   PMID:14744259   PMID:15161933   PMID:15489334   PMID:15778465   PMID:16344560   PMID:16710414   PMID:19707205  
PMID:19911011   PMID:20339536   PMID:20679435   PMID:21139582   PMID:21873635   PMID:22889411   PMID:24623722   PMID:25416956   PMID:25468996   PMID:26882976   PMID:28514442   PMID:28611215  
PMID:30126976   PMID:30305138   PMID:30639242   PMID:31519766   PMID:32203420   PMID:32296183   PMID:32811808  


Genomics

Comparative Map Data
ARHGEF16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl13,454,665 - 3,481,113 (+)EnsemblGRCh38hg38GRCh38
GRCh3813,454,589 - 3,481,115 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713,371,229 - 3,397,677 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613,369,982 - 3,387,537 (+)NCBINCBI36hg18NCBI36
Build 3413,403,278 - 3,420,832NCBI
Celera12,624,447 - 2,650,733 (+)NCBI
Cytogenetic Map1p36.32NCBI
HuRef12,663,841 - 2,692,412 (+)NCBIHuRef
CHM1_113,357,218 - 3,384,706 (+)NCBICHM1_1
Arhgef16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394154,362,926 - 154,384,535 (-)NCBIGRCm39mm39
GRCm39 Ensembl4154,362,943 - 154,386,133 (-)Ensembl
GRCm384154,278,469 - 154,300,107 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4154,278,486 - 154,301,676 (-)EnsemblGRCm38mm10GRCm38
MGSCv374153,652,579 - 153,674,004 (-)NCBIGRCm37mm9NCBIm37
MGSCv364153,122,270 - 153,144,133 (-)NCBImm8
Celera4156,565,792 - 156,575,315 (-)NCBICelera
Cytogenetic Map4E2NCBI
Arhgef16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25164,843,656 - 164,866,212 (-)NCBI
Rnor_6.0 Ensembl5171,624,796 - 171,648,563 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05171,626,450 - 171,649,124 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05175,097,644 - 175,120,197 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera5163,054,279 - 163,076,331 (-)NCBICelera
Cytogenetic Map5q36NCBI
Arhgef16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554868,109,291 - 8,123,404 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554868,109,291 - 8,128,184 (-)NCBIChiLan1.0ChiLan1.0
ARHGEF16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.113,258,189 - 3,276,337 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13,258,664 - 3,275,809 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012,121,058 - 2,148,391 (+)NCBIMhudiblu_PPA_v0panPan3
ARHGEF16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1558,031,246 - 58,051,936 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl558,030,459 - 58,051,936 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha558,042,558 - 58,063,422 (+)NCBI
ROS_Cfam_1.0558,232,977 - 58,253,909 (+)NCBI
UMICH_Zoey_3.1558,247,674 - 58,268,510 (+)NCBI
UNSW_CanFamBas_1.0558,116,370 - 58,137,240 (+)NCBI
UU_Cfam_GSD_1.0558,506,497 - 58,527,429 (+)NCBI
Arhgef16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505829,067,527 - 29,096,097 (+)NCBI
SpeTri2.0NW_004936737369,872 - 383,671 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl665,026,521 - 65,048,512 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1665,026,490 - 65,048,545 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2659,773,558 - 59,794,924 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF16
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120128,204,517 - 128,229,866 (-)NCBI
Vero_WHO_p1.0NW_02366605432,483,595 - 32,510,575 (-)NCBI
Arhgef16
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248186,949,484 - 6,966,195 (-)NCBI

Position Markers
SHGC-74074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713,397,140 - 3,397,335UniSTSGRCh37
Build 3613,387,000 - 3,387,195RGDNCBI36
Celera12,650,194 - 2,650,389RGD
Cytogenetic Map1p36.3UniSTS
HuRef12,691,873 - 2,692,068UniSTS
TNG Radiation Hybrid Map11158.0UniSTS
GeneMap99-GB4 RH Map19.45UniSTS
D1S3709E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713,397,518 - 3,397,643UniSTSGRCh37
Build 3613,387,378 - 3,387,503RGDNCBI36
Celera12,650,574 - 2,650,699RGD
Cytogenetic Map1p36.3UniSTS
HuRef12,692,253 - 2,692,378UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2876
Count of miRNA genes:835
Interacting mature miRNAs:1022
Transcripts:ENST00000378371, ENST00000378373, ENST00000378378, ENST00000413250, ENST00000418137, ENST00000445297, ENST00000464620, ENST00000485984
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High
Medium 853 3 1034 239 127 83 1282 15 860 271 625 975 168 33 872 3
Low 1491 1004 553 368 356 366 2229 1446 2470 138 725 617 3 1168 1120 1
Below cutoff 81 1874 128 12 887 13 831 725 363 7 95 10 1 3 792 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_014448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK091910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D89016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA539376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB499586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378371   ⟹   ENSP00000367622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13,466,971 - 3,481,113 (+)Ensembl
RefSeq Acc Id: ENST00000378373   ⟹   ENSP00000367624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13,466,005 - 3,481,113 (+)Ensembl
RefSeq Acc Id: ENST00000378378   ⟹   ENSP00000367629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13,454,665 - 3,481,113 (+)Ensembl
RefSeq Acc Id: ENST00000418137   ⟹   ENSP00000390853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13,471,624 - 3,476,019 (+)Ensembl
RefSeq Acc Id: ENST00000445297   ⟹   ENSP00000411936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13,468,544 - 3,473,521 (+)Ensembl
RefSeq Acc Id: ENST00000464620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13,471,607 - 3,474,457 (+)Ensembl
RefSeq Acc Id: ENST00000485984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13,472,769 - 3,481,113 (+)Ensembl
RefSeq Acc Id: NM_014448   ⟹   NP_055263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813,454,665 - 3,481,113 (+)NCBI
GRCh3713,371,147 - 3,397,677 (+)RGD
Build 3613,369,982 - 3,387,537 (+)NCBI Archive
Celera12,624,447 - 2,650,733 (+)RGD
HuRef12,663,841 - 2,692,412 (+)ENTREZGENE
CHM1_113,357,218 - 3,384,706 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001049   ⟹   XP_016856538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813,458,702 - 3,481,115 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001050   ⟹   XP_016856539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813,454,810 - 3,481,115 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001051   ⟹   XP_016856540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813,454,589 - 3,481,115 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446454   ⟹   XP_024302222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813,466,148 - 3,481,115 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446455   ⟹   XP_024302223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813,467,331 - 3,481,115 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001737117
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813,458,702 - 3,481,115 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055263   ⟸   NM_014448
- UniProtKB: Q5VV41 (UniProtKB/Swiss-Prot),   B3KTS4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856540   ⟸   XM_017001051
- Peptide Label: isoform X2
- UniProtKB: Q5VV41 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856539   ⟸   XM_017001050
- Peptide Label: isoform X2
- UniProtKB: Q5VV41 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856538   ⟸   XM_017001049
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024302222   ⟸   XM_024446454
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024302223   ⟸   XM_024446455
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000367622   ⟸   ENST00000378371
RefSeq Acc Id: ENSP00000367624   ⟸   ENST00000378373
RefSeq Acc Id: ENSP00000367629   ⟸   ENST00000378378
RefSeq Acc Id: ENSP00000390853   ⟸   ENST00000418137
RefSeq Acc Id: ENSP00000411936   ⟸   ENST00000445297
Protein Domains
DH   PH   SH3

Promoters
RGD ID:6784627
Promoter ID:HG_KWN:323
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000001515
Position:
Human AssemblyChrPosition (strand)Source
Build 3613,360,986 - 3,361,486 (+)MPROMDB
RGD ID:6853848
Promoter ID:EPDNEW_H89
Type:initiation region
Name:ARHGEF16_1
Description:Rho guanine nucleotide exchange factor 16
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
GRCh3813,471,624 - 3,471,684EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3 copy number gain Distal trisomy 1p36 [RCV000519759] Chr1:852863..4203509 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 copy number loss See cases [RCV000050882] Chr1:844347..3712147 [GRCh38]
Chr1:779727..3628711 [GRCh37]
Chr1:769590..3618571 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 copy number loss See cases [RCV000050642] Chr1:844347..5682587 [GRCh38]
Chr1:779727..5742647 [GRCh37]
Chr1:769590..5665234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1 copy number loss See cases [RCV000051086] Chr1:2844760..8007940 [GRCh38]
Chr1:2761325..8068000 [GRCh37]
Chr1:2751185..7990587 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 copy number gain See cases [RCV000051779] Chr1:792758..5006311 [GRCh38]
Chr1:728138..5066371 [GRCh37]
Chr1:718001..4966231 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 copy number gain See cases [RCV000051780] Chr1:826553..4719105 [GRCh38]
Chr1:761933..4779165 [GRCh37]
Chr1:751796..4679025 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] Chr1:844347..6231924 [GRCh38]
Chr1:779727..6291984 [GRCh37]
Chr1:769590..6214571 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 copy number loss See cases [RCV000052063] Chr1:870177..4426613 [GRCh38]
Chr1:805557..4486673 [GRCh37]
Chr1:795420..4386533 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 copy number loss See cases [RCV000052066] Chr1:872305..4133409 [GRCh38]
Chr1:807685..4193469 [GRCh37]
Chr1:797548..4093329 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 copy number loss See cases [RCV000052070] Chr1:1181847..5507243 [GRCh38]
Chr1:1117227..5567303 [GRCh37]
Chr1:1107090..5489890 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1 copy number loss See cases [RCV000052073] Chr1:2683403..4729121 [GRCh38]
Chr1:2614842..4789181 [GRCh37]
Chr1:2604702..4689041 [NCBI36]
Chr1:1p36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 copy number loss See cases [RCV000051996] Chr1:821713..4155674 [GRCh38]
Chr1:757093..4215734 [GRCh37]
Chr1:746956..4115594 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 copy number loss See cases [RCV000052014] Chr1:844147..5970026 [GRCh38]
Chr1:779527..6030086 [GRCh37]
Chr1:769390..5952673 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 copy number loss See cases [RCV000052015] Chr1:844147..5827203 [GRCh38]
Chr1:779527..5887263 [GRCh37]
Chr1:769390..5809850 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 copy number loss See cases [RCV000052017] Chr1:844147..4598532 [GRCh38]
Chr1:779527..4658592 [GRCh37]
Chr1:769390..4558452 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 copy number loss See cases [RCV000052018] Chr1:844147..5020772 [GRCh38]
Chr1:779527..5080832 [GRCh37]
Chr1:769390..4980692 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] Chr1:844347..5363885 [GRCh38]
Chr1:779727..5423945 [GRCh37]
Chr1:769590..5323805 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] Chr1:844347..5431639 [GRCh38]
Chr1:779727..5491699 [GRCh37]
Chr1:769590..5414286 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 copy number loss See cases [RCV000052040] Chr1:844347..4665295 [GRCh38]
Chr1:779727..4725355 [GRCh37]
Chr1:769590..4625215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|See cases [RCV000053718] Chr1:3438149..8171914 [GRCh38]
Chr1:3354713..8231974 [GRCh37]
Chr1:3344573..8154561 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1 copy number loss See cases [RCV000053720] Chr1:3472163..7842947 [GRCh38]
Chr1:3388727..7903007 [GRCh37]
Chr1:3378587..7825594 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 copy number gain See cases [RCV000133658] Chr1:911300..3614487 [GRCh38]
Chr1:846680..3531051 [GRCh37]
Chr1:836543..3520911 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 copy number loss See cases [RCV000134211] Chr1:1118636..4179080 [GRCh38]
Chr1:1054016..4239140 [GRCh37]
Chr1:1043879..4139000 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 copy number loss See cases [RCV000134747] Chr1:844353..3487877 [GRCh38]
Chr1:779733..3404441 [GRCh37]
Chr1:769596..3394301 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 copy number gain See cases [RCV000134750] Chr1:844353..5827192 [GRCh38]
Chr1:779733..5887252 [GRCh37]
Chr1:769596..5809839 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 copy number loss See cases [RCV000134137] Chr1:844347..4398122 [GRCh38]
Chr1:779727..4458182 [GRCh37]
Chr1:769590..4358042 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3 copy number gain See cases [RCV000135373] Chr1:3354056..3743487 [GRCh38]
Chr1:3270620..3660051 [GRCh37]
Chr1:3260480..3649911 [NCBI36]
Chr1:1p36.32
uncertain significance
GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3 copy number gain See cases [RCV000135557] Chr1:2778184..3528282 [GRCh38]
Chr1:2694731..3444846 [GRCh37]
Chr1:2684591..3434706 [NCBI36]
Chr1:1p36.32
likely benign
GRCh38/hg38 1p36.32(chr1:3319336-3614487)x1 copy number loss See cases [RCV000136588] Chr1:3319336..3614487 [GRCh38]
Chr1:3235900..3531051 [GRCh37]
Chr1:3225760..3520911 [NCBI36]
Chr1:1p36.32
uncertain significance
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 copy number loss See cases [RCV000136715] Chr1:874379..4973261 [GRCh38]
Chr1:809759..5033321 [GRCh37]
Chr1:799622..4933181 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1 copy number loss See cases [RCV000137587] Chr1:2906020..5336116 [GRCh38]
Chr1:2822585..5396176 [GRCh37]
Chr1:2812445..5296036 [NCBI36]
Chr1:1p36.32-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 copy number loss See cases [RCV000137380] Chr1:1022094..4665295 [GRCh38]
Chr1:957474..4725355 [GRCh37]
Chr1:947337..4625215 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 copy number loss See cases [RCV000138225] Chr1:821713..3569891 [GRCh38]
Chr1:757093..3486455 [GRCh37]
Chr1:746956..3476315 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 copy number gain See cases [RCV000138165] Chr1:821713..3928354 [GRCh38]
Chr1:757093..3823583 [GRCh37]
Chr1:746956..3834778 [NCBI36]
Chr1:1p36.33-36.32
likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 copy number loss See cases [RCV000137978] Chr1:821713..5239643 [GRCh38]
Chr1:757093..5299703 [GRCh37]
Chr1:746956..5199563 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4 copy number gain See cases [RCV000138951] Chr1:1756301..3649513 [GRCh38]
Chr1:1687740..3566077 [GRCh37]
Chr1:1677600..3555937 [NCBI36]
Chr1:1p36.33-36.32
uncertain significance
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 copy number loss See cases [RCV000140164] Chr1:778698..4898439 [GRCh38]
Chr1:714078..4958499 [GRCh37]
Chr1:703941..4858359 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3 copy number gain See cases [RCV000139659] Chr1:1330915..3743546 [GRCh38]
Chr1:1266295..3660110 [GRCh37]
Chr1:1256158..3649970 [NCBI36]
Chr1:1p36.33-36.32
uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 copy number loss See cases [RCV000141318] Chr1:821713..5099990 [GRCh38]
Chr1:757093..5160050 [GRCh37]
Chr1:746956..5059910 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 copy number loss See cases [RCV000141356] Chr1:821713..4225085 [GRCh38]
Chr1:757093..4285145 [GRCh37]
Chr1:746956..4185005 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 copy number loss See cases [RCV000140709] Chr1:821713..5480263 [GRCh38]
Chr1:757093..5540323 [GRCh37]
Chr1:746956..5462910 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 copy number loss See cases [RCV000141668] Chr1:914086..3587042 [GRCh38]
Chr1:849466..3503606 [GRCh37]
Chr1:839329..3493466 [NCBI36]
Chr1:1p36.33-36.32
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1 copy number loss See cases [RCV000141437] Chr1:2868477..7332569 [GRCh38]
Chr1:2785042..7392629 [GRCh37]
Chr1:2774902..7315216 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3 copy number gain See cases [RCV000449132] Chr1:849466..3396845 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1 copy number loss See cases [RCV000449322] Chr1:849466..5318552 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3 copy number gain See cases [RCV000447000] Chr1:19225..4401691 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:2628037-3544272)x3 copy number gain See cases [RCV000447500] Chr1:2628037..3544272 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1 copy number loss See cases [RCV000446544] Chr1:849466..4099471 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3 copy number gain See cases [RCV000447158] Chr1:2609223..2631378 [GRCh37]
Chr1:1p36.32-36.31
benign
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1 copy number loss See cases [RCV000447515] Chr1:564424..3582058 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1 copy number loss See cases [RCV000448903] Chr1:849466..5707515 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 copy number loss See cases [RCV000512052] Chr1:849466..6374209 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1 copy number loss See cases [RCV000510640] Chr1:849466..4048535 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1 copy number loss See cases [RCV000510212] Chr1:2793822..7510850 [GRCh37]
Chr1:1p36.32-36.23
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 copy number loss See cases [RCV000510494] Chr1:849466..6505278 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1 copy number loss See cases [RCV000511946] Chr1:1415800..5007235 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1 copy number loss See cases [RCV000512243] Chr1:849466..5352492 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) copy number loss Primary dilated cardiomyopathy [RCV000626523] Chr1:834101..6076140 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1 copy number loss not provided [RCV000684533] Chr1:849466..4262915 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1 copy number loss not provided [RCV000684537] Chr1:2190850..3503606 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:2740166-3647525)x3 copy number gain not provided [RCV000684541] Chr1:2740166..3647525 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1 copy number loss not provided [RCV000748814] Chr1:977062..5179574 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.32(chr1:3362256-3416173)x3 copy number gain not provided [RCV000748855] Chr1:3362256..3416173 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.32(chr1:3362256-3417211)x3 copy number gain not provided [RCV000748856] Chr1:3362256..3417211 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.32(chr1:3389727-3423467)x3 copy number gain not provided [RCV000748857] Chr1:3389727..3423467 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.32(chr1:3393037-3417211)x3 copy number gain not provided [RCV000748858] Chr1:3393037..3417211 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.32(chr1:3393037-3418462)x3 copy number gain not provided [RCV000748859] Chr1:3393037..3418462 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.32(chr1:3393037-3423467)x3 copy number gain not provided [RCV000748860] Chr1:3393037..3423467 [GRCh37]
Chr1:1p36.32
benign
NM_014448.4(ARHGEF16):c.1640T>C (p.Met547Thr) single nucleotide variant not provided [RCV000961249] Chr1:3478438 [GRCh38]
Chr1:3395002 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV000856630] Chr1:1723651..3444846 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645) copy number gain not provided [RCV000767773] Chr1:1471075..5831645 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) copy number loss Chromosome 1p36 deletion syndrome [RCV000767775] Chr1:568708..3662949 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1 copy number loss See cases [RCV000790598] Chr1:2261222..5304873 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_014448.4(ARHGEF16):c.1888+9G>A single nucleotide variant not provided [RCV000961250] Chr1:3479599 [GRCh38]
Chr1:3396163 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_014448.4(ARHGEF16):c.954G>A (p.Ala318=) single nucleotide variant not provided [RCV000964362] Chr1:3469525 [GRCh38]
Chr1:3386089 [GRCh37]
Chr1:1p36.32
benign
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1 copy number loss not provided [RCV001005058] Chr1:849466..6002955 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1 copy number loss not provided [RCV001005059] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 copy number loss not provided [RCV001005060] Chr1:849466..4829059 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
Single allele deletion Chromosome 1p36 deletion syndrome [RCV001250754] Chr1:1670720..3816863 [GRCh37]
Chr1:1p36.33-36.32
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23
likely pathogenic
GRCh37/hg19 1p36.32(chr1:3202162-4143527)x3 copy number gain not provided [RCV001260108] Chr1:3202162..4143527 [GRCh37]
Chr1:1p36.32
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1 copy number loss not provided [RCV001260116] Chr1:1..5592835 [GRCh37]
Chr1:1p36.33-36.31
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15515 AgrOrtholog
COSMIC ARHGEF16 COSMIC
Ensembl Genes ENSG00000130762 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367622 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367624 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367629 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390853 UniProtKB/TrEMBL
  ENSP00000411936 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378371 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378378 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418137 UniProtKB/TrEMBL
  ENST00000445297 UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130762 GTEx
HGNC ID HGNC:15515 ENTREZGENE
Human Proteome Map ARHGEF16 Human Proteome Map
InterPro ARHGEF16/ARHGEF26_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27237 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27237 ENTREZGENE
OMIM 618871 OMIM
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24971 PharmGKB
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0SFX5_HUMAN UniProtKB/TrEMBL
  ARHGG_HUMAN UniProtKB/Swiss-Prot
  B0QZD3_HUMAN UniProtKB/TrEMBL
  B0QZD4_HUMAN UniProtKB/TrEMBL
  B3KTS4 ENTREZGENE, UniProtKB/TrEMBL
  L8EAP0_HUMAN UniProtKB/TrEMBL
  Q5VV41 ENTREZGENE
UniProt Secondary Q86TF0 UniProtKB/Swiss-Prot
  Q99434 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF16  Rho guanine nucleotide exchange factor 16    Rho guanine nucleotide exchange factor (GEF) 16  Symbol and/or name change 5135510 APPROVED
2011-09-01 ARHGEF16  Rho guanine nucleotide exchange factor (GEF) 16  ARHGEF16  Rho guanine nucleotide exchange factor (GEF) 16  Symbol and/or name change 5135510 APPROVED
2011-07-27 ARHGEF16  Rho guanine nucleotide exchange factor (GEF) 16  ARHGEF16  Rho guanine exchange factor (GEF) 16  Symbol and/or name change 5135510 APPROVED