GPSM2 (G protein signaling modulator 2) - Rat Genome Database

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Gene: GPSM2 (G protein signaling modulator 2) Homo sapiens
Analyze
Symbol: GPSM2
Name: G protein signaling modulator 2
RGD ID: 1351498
HGNC Page HGNC:29501
Description: Enables several functions, including dynein complex binding activity; identical protein binding activity; and protein self-association. Involved in several processes, including maintenance of centrosome location; microtubule cytoskeleton organization involved in mitosis; and regulation of spindle organization. Located in cytosol; lateral cell cortex; and microtubule cytoskeleton. Part of protein-containing complex. Implicated in sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMCS; deafness, autosomal recessive 82; DFNB82; G-protein signaling modulator 2; G-protein signaling modulator 2 (AGS3-like, C. elegans); G-protein signalling modulator 2 (AGS3-like, C. elegans); G-protein-signaling modulator 2; LGN; mosaic protein LGN; Pins
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
GRCh381108,876,985 - 108,934,545 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1108,875,350 - 108,934,545 (+)EnsemblGRCh38hg38GRCh38
GRCh371109,419,607 - 109,477,167 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361109,221,350 - 109,274,546 (+)NCBINCBI36Build 36hg18NCBI36
Build 341109,131,868 - 109,185,060NCBI
Celera1107,689,180 - 107,742,602 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1107,312,482 - 107,365,905 (+)NCBIHuRef
CHM1_11109,534,554 - 109,587,989 (+)NCBICHM1_1
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
butyric acid  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
etoposide  (EXP)
folic acid  (ISO)
hydrogen peroxide  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methoxyacetic acid  (EXP)
mitomycin C  (EXP,ISO)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
permethrin  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
promegestone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Expression analysis and subcellular distribution of the two G-protein regulators AGS3 and LGN indicate distinct functionality. Localization of LGN to the midbody during cytokinesis. Blumer JB, etal., J Biol Chem 2002 May 3;277(18):15897-903.
2. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Doherty D, etal., Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Walsh T, etal., Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.
9. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Yariz KO, etal., Clin Genet. 2012 Mar;81(3):289-93. doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15.
Additional References at PubMed
PMID:8973305   PMID:11781568   PMID:12445386   PMID:12477932   PMID:12748287   PMID:12925752   PMID:15489334   PMID:15537540   PMID:15632202   PMID:16458856   PMID:17289029   PMID:18029348  
PMID:19888295   PMID:20056645   PMID:20301607   PMID:20479129   PMID:20508983   PMID:20589935   PMID:20888340   PMID:20933426   PMID:21653829   PMID:21816348   PMID:21873635   PMID:21897333  
PMID:22074847   PMID:22327364   PMID:22690686   PMID:22977735   PMID:22987632   PMID:23027904   PMID:23389635   PMID:23494849   PMID:23783028   PMID:23870127   PMID:23907121   PMID:24165937  
PMID:25664792   PMID:26398908   PMID:26496610   PMID:26662512   PMID:26751642   PMID:26766442   PMID:26987813   PMID:27064331   PMID:27180139   PMID:27462074   PMID:28045117   PMID:28347229  
PMID:28712573   PMID:29117863   PMID:29523789   PMID:30639242   PMID:31101817   PMID:31732560   PMID:32020211   PMID:32058048   PMID:32296183   PMID:32812493   PMID:33961781   PMID:34373451  
PMID:35256949   PMID:35914814   PMID:35940821  


Genomics

Comparative Map Data
GPSM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381108,876,985 - 108,934,545 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1108,875,350 - 108,934,545 (+)EnsemblGRCh38hg38GRCh38
GRCh371109,419,607 - 109,477,167 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361109,221,350 - 109,274,546 (+)NCBINCBI36Build 36hg18NCBI36
Build 341109,131,868 - 109,185,060NCBI
Celera1107,689,180 - 107,742,602 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1107,312,482 - 107,365,905 (+)NCBIHuRef
CHM1_11109,534,554 - 109,587,989 (+)NCBICHM1_1
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBIT2T-CHM13v2.0
Gpsm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393108,585,954 - 108,629,637 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3108,585,954 - 108,629,625 (-)EnsemblGRCm39 Ensembl
GRCm383108,678,270 - 108,722,331 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3108,678,638 - 108,722,309 (-)EnsemblGRCm38mm10GRCm38
MGSCv373108,481,556 - 108,525,217 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363108,806,694 - 108,850,199 (-)NCBIMGSCv36mm8
Celera3111,013,385 - 111,057,040 (-)NCBICelera
Cytogenetic Map3F3NCBI
cM Map347.53NCBI
Gpsm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82199,015,250 - 199,063,788 (-)NCBIGRCr8
mRatBN7.22196,327,149 - 196,375,322 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2196,327,149 - 196,375,154 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2203,965,006 - 204,004,696 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02201,846,975 - 201,886,687 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02196,663,951 - 196,703,663 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02211,480,120 - 211,528,096 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2211,480,400 - 211,527,919 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02230,953,071 - 230,992,673 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42204,278,765 - 204,319,522 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2188,970,456 - 189,014,462 (-)NCBICelera
Cytogenetic Map2q34NCBI
Gpsm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543512,334,462 - 12,387,262 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543512,334,462 - 12,387,262 (+)NCBIChiLan1.0ChiLan1.0
GPSM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21118,371,171 - 118,428,126 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11117,531,227 - 117,588,204 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01111,253,158 - 111,309,619 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11110,418,940 - 110,474,066 (+)NCBIpanpan1.1PanPan1.1panPan2
GPSM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1642,828,611 - 42,878,334 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl642,824,455 - 42,868,690 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha645,603,445 - 45,654,570 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0643,160,694 - 43,211,820 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl643,149,595 - 43,212,031 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1642,891,237 - 42,942,313 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0642,850,140 - 42,900,772 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0643,291,232 - 43,342,358 (-)NCBIUU_Cfam_GSD_1.0
Gpsm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505819,597,321 - 19,667,028 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936704462,971 - 516,829 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936704462,984 - 516,929 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPSM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4111,102,396 - 111,165,886 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14111,100,912 - 111,165,902 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24121,594,274 - 121,661,651 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPSM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12024,659,470 - 24,713,714 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2024,659,957 - 24,713,677 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603833,636,699 - 33,692,971 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gpsm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247724,651,326 - 4,704,280 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247724,634,005 - 4,704,280 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPSM2
236 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter) single nucleotide variant Chudley-McCullough syndrome [RCV000023761] Chr1:108924083 [GRCh38]
Chr1:109466705 [GRCh37]
Chr1:1p13.3		 pathogenic
GPSM2, 1-BP DEL, 1473G deletion Chudley-McCullough syndrome [RCV000029163] Chr1:1p13.1 pathogenic
NM_013296.5(GPSM2):c.742del (p.Gly249fs) deletion Chudley-McCullough syndrome [RCV000029164]|GPSM2-Related Disorders [RCV000778933]|Rare genetic deafness [RCV000844707]|not provided [RCV000223985] Chr1:108898938 [GRCh38]
Chr1:109441560 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) single nucleotide variant Chudley-McCullough syndrome [RCV000029165]|not provided [RCV000578923] Chr1:108924060 [GRCh38]
Chr1:109466682 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
NM_013296.5(GPSM2):c.1062+1G>T single nucleotide variant Chudley-McCullough syndrome [RCV000029166]|not provided [RCV001731315]|not specified [RCV000507416] Chr1:108903235 [GRCh38]
Chr1:109445857 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) single nucleotide variant Chudley-McCullough syndrome [RCV000001897]|Hearing loss, autosomal recessive [RCV000454206] Chr1:108897592 [GRCh38]
Chr1:109440214 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.835G>C (p.Ala279Pro) single nucleotide variant Inborn genetic diseases [RCV002525175]|not provided [RCV000519758] Chr1:108901827 [GRCh38]
Chr1:109444449 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) single nucleotide variant Chudley-McCullough syndrome [RCV001001606]|not provided [RCV000992087]|not specified [RCV000038779] Chr1:108904128 [GRCh38]
Chr1:109446750 [GRCh37]
Chr1:1p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) single nucleotide variant Chudley-McCullough syndrome [RCV000333660]|not provided [RCV000992088]|not specified [RCV000038780] Chr1:108918719 [GRCh38]
Chr1:109461341 [GRCh37]
Chr1:1p13.3		 benign|likely benign|uncertain significance
NM_013296.5(GPSM2):c.1440+15A>G single nucleotide variant not specified [RCV000038781] Chr1:108918804 [GRCh38]
Chr1:109461426 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) single nucleotide variant Chudley-McCullough syndrome [RCV001097788]|not provided [RCV000728743]|not specified [RCV000038782] Chr1:108929928 [GRCh38]
Chr1:109472550 [GRCh37]
Chr1:1p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013296.5(GPSM2):c.278+5T>C single nucleotide variant Chudley-McCullough syndrome [RCV000347666]|not provided [RCV000711835]|not specified [RCV000038783] Chr1:108897090 [GRCh38]
Chr1:109439712 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) single nucleotide variant Chudley-McCullough syndrome [RCV000398884]|not provided [RCV002054716]|not specified [RCV000038784] Chr1:108897593 [GRCh38]
Chr1:109440215 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) single nucleotide variant Chudley-McCullough syndrome [RCV001099470]|not specified [RCV000038785] Chr1:108898073 [GRCh38]
Chr1:109440695 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) single nucleotide variant Chudley-McCullough syndrome [RCV000360553]|not provided [RCV000711836]|not specified [RCV000038786] Chr1:108898950 [GRCh38]
Chr1:109441572 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) single nucleotide variant Chudley-McCullough syndrome [RCV001000379]|not provided [RCV000946477]|not specified [RCV000038787] Chr1:108901820 [GRCh38]
Chr1:109444442 [GRCh37]
Chr1:1p13.3		 benign|likely benign|uncertain significance
NM_013296.5(GPSM2):c.87G>A (p.Leu29=) single nucleotide variant Chudley-McCullough syndrome [RCV001097693]|not provided [RCV000906230]|not specified [RCV000038788] Chr1:108896894 [GRCh38]
Chr1:109439516 [GRCh37]
Chr1:1p13.3		 benign|likely benign
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2		 pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 copy number loss See cases [RCV000053881] Chr1:106074587..110144290 [GRCh38]
Chr1:106617209..110686912 [GRCh37]
Chr1:106418732..110488435 [NCBI36]
Chr1:1p21.1-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 copy number loss See cases [RCV000135333] Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3 copy number gain See cases [RCV000136126] Chr1:108807502..109134584 [GRCh38]
Chr1:109350124..109677206 [GRCh37]
Chr1:109151647..109478729 [NCBI36]
Chr1:1p13.3		 uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2		 pathogenic
NM_001377458.1(CLCC1):c.*2854T>C single nucleotide variant Chudley-McCullough syndrome [RCV002498695]|GPSM2-related condition [RCV003935264]|not provided [RCV000972365]|not specified [RCV000150795] Chr1:108929693 [GRCh38]
Chr1:109472315 [GRCh37]
Chr1:1p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) single nucleotide variant not provided [RCV000514772]|not specified [RCV000150796] Chr1:108929705 [GRCh38]
Chr1:109472327 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.-2C>T single nucleotide variant not specified [RCV000156020] Chr1:108885521 [GRCh38]
Chr1:109428143 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) single nucleotide variant Chudley-McCullough syndrome [RCV001097694]|not provided [RCV001657891]|not specified [RCV000156242] Chr1:108896993 [GRCh38]
Chr1:109439615 [GRCh37]
Chr1:1p13.3		 benign|likely benign|uncertain significance
NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu) single nucleotide variant Hearing impairment [RCV001375230]|not specified [RCV000150797] Chr1:108929761 [GRCh38]
Chr1:109472383 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.459_460del (p.Ala154fs) deletion Rare genetic deafness [RCV000156837] Chr1:108898003..108898004 [GRCh38]
Chr1:109440625..109440626 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
NM_013296.5(GPSM2):c.1021G>A (p.Ala341Thr) single nucleotide variant Inborn genetic diseases [RCV002515038]|not provided [RCV001731403]|not specified [RCV000156852] Chr1:108903193 [GRCh38]
Chr1:109445815 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln) single nucleotide variant not provided [RCV002514984]|not specified [RCV000155122] Chr1:108898677 [GRCh38]
Chr1:109441299 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) single nucleotide variant Chudley-McCullough syndrome [RCV000327761]|GPSM2-related condition [RCV003965159]|not provided [RCV000756212]|not specified [RCV000155123] Chr1:108924138 [GRCh38]
Chr1:109466760 [GRCh37]
Chr1:1p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013296.5(GPSM2):c.249A>G (p.Glu83=) single nucleotide variant not provided [RCV002056101]|not specified [RCV000155717] Chr1:108897056 [GRCh38]
Chr1:109439678 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) single nucleotide variant Chudley-McCullough syndrome [RCV000764929]|GPSM2-related condition [RCV003977515]|not provided [RCV002253283]|not specified [RCV000193105] Chr1:108929794 [GRCh38]
Chr1:109472416 [GRCh37]
Chr1:1p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013296.5(GPSM2):c.683G>A (p.Arg228His) single nucleotide variant Chudley-McCullough syndrome [RCV000303477]|not provided [RCV002519365] Chr1:108898880 [GRCh38]
Chr1:109441502 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg) single nucleotide variant Chudley-McCullough syndrome [RCV000276225]|not specified [RCV000606683] Chr1:108918707 [GRCh38]
Chr1:109461329 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1244T>C (p.Met415Thr) single nucleotide variant Chudley-McCullough syndrome [RCV000263145]|Inborn genetic diseases [RCV002519366] Chr1:108914389 [GRCh38]
Chr1:109457011 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys) single nucleotide variant Chudley-McCullough syndrome [RCV000290642] Chr1:108897085 [GRCh38]
Chr1:109439707 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.2040A>G (p.Lys680=) single nucleotide variant Chudley-McCullough syndrome [RCV000378661]|not provided [RCV002059319] Chr1:108929925 [GRCh38]
Chr1:109472547 [GRCh37]
Chr1:1p13.3		 benign|uncertain significance
NM_013296.5(GPSM2):c.1799T>A (p.Ile600Asn) single nucleotide variant Chudley-McCullough syndrome [RCV000384592]|Inborn genetic diseases [RCV002519367] Chr1:108924198 [GRCh38]
Chr1:109466820 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1356G>A (p.Gly452=) single nucleotide variant Chudley-McCullough syndrome [RCV000368362]|not provided [RCV003765693] Chr1:108918705 [GRCh38]
Chr1:109461327 [GRCh37]
Chr1:1p13.3		 likely benign|uncertain significance
NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) single nucleotide variant Chudley-McCullough syndrome [RCV000756213] Chr1:108898022 [GRCh38]
Chr1:109440644 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1670G>A (p.Arg557His) single nucleotide variant not provided [RCV001770163]|not specified [RCV000217721] Chr1:108924069 [GRCh38]
Chr1:109466691 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1063-1G>T single nucleotide variant Rare genetic deafness [RCV000218080] Chr1:108904124 [GRCh38]
Chr1:109446746 [GRCh37]
Chr1:1p13.3		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) microsatellite Chudley-McCullough syndrome [RCV001701798]|Nonsyndromic Hearing Loss, Recessive [RCV000270361]|not provided [RCV000711834]|not specified [RCV000218159] Chr1:108922544..108922546 [GRCh38]
Chr1:109465166..109465168 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.831C>G (p.Asp277Glu) single nucleotide variant not specified [RCV000214088] Chr1:108901823 [GRCh38]
Chr1:109444445 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.123C>T (p.Arg41=) single nucleotide variant not specified [RCV000218882] Chr1:108896930 [GRCh38]
Chr1:109439552 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.57-10A>G single nucleotide variant GPSM2-related condition [RCV003955273]|not provided [RCV001697247]|not specified [RCV000221520] Chr1:108896854 [GRCh38]
Chr1:109439476 [GRCh37]
Chr1:1p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013296.4(GPSM2):c.1471delG (p.Phe492Serfs) deletion not provided [RCV000224236] Chr1:108922447 [GRCh38]
Chr1:109465069 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.4(GPSM2):c.741delC (p.Gly249Glufs) deletion not provided [RCV000223985] Chr1:108898938 [GRCh38]
Chr1:109441560 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.1263+11G>A single nucleotide variant Chudley-McCullough syndrome [RCV000330082]|not provided [RCV001718592] Chr1:108914419 [GRCh38]
Chr1:109457041 [GRCh37]
Chr1:1p13.3		 benign|likely benign|uncertain significance
NM_013296.5(GPSM2):c.624T>C (p.Leu208=) single nucleotide variant not specified [RCV000600928] Chr1:108898708 [GRCh38]
Chr1:109441330 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) deletion Chudley-McCullough syndrome [RCV000626209] Chr1:108922520..108922527 [GRCh38]
Chr1:109465142..109465149 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp) single nucleotide variant Chudley-McCullough syndrome [RCV001101472]|not provided [RCV000970421]|not specified [RCV000600202] Chr1:108914361 [GRCh38]
Chr1:109456983 [GRCh37]
Chr1:1p13.3		 benign|likely benign|uncertain significance
NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln) single nucleotide variant Chudley-McCullough syndrome [RCV000340491]|not provided [RCV001859742] Chr1:108929795 [GRCh38]
Chr1:109472417 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.557+17A>G single nucleotide variant not provided [RCV002058239]|not specified [RCV000245980] Chr1:108898118 [GRCh38]
Chr1:109440740 [GRCh37]
Chr1:1p13.3		 benign
NM_001377458.1(CLCC1):c.*2152G>A single nucleotide variant Chudley-McCullough syndrome [RCV000299988] Chr1:108930395 [GRCh38]
Chr1:109473017 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.-469C>G single nucleotide variant Chudley-McCullough syndrome [RCV000352935] Chr1:108877008 [GRCh38]
Chr1:109419630 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-426G>A single nucleotide variant Chudley-McCullough syndrome [RCV000375866] Chr1:108877051 [GRCh38]
Chr1:109419673 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001377458.1(CLCC1):c.*2356A>G single nucleotide variant Chudley-McCullough syndrome [RCV000335054]|not provided [RCV001683169] Chr1:108930191 [GRCh38]
Chr1:109472813 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_001377458.1(CLCC1):c.*2396C>T single nucleotide variant Chudley-McCullough syndrome [RCV000286644]|not provided [RCV001537426] Chr1:108930151 [GRCh38]
Chr1:109472773 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.-429C>T single nucleotide variant Chudley-McCullough syndrome [RCV000318961] Chr1:108877048 [GRCh38]
Chr1:109419670 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001377458.1(CLCC1):c.*2140C>A single nucleotide variant Chudley-McCullough syndrome [RCV000406922] Chr1:108930407 [GRCh38]
Chr1:109473029 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-486G>C single nucleotide variant Chudley-McCullough syndrome [RCV000323751] Chr1:108876991 [GRCh38]
Chr1:109419613 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-397C>G single nucleotide variant Chudley-McCullough syndrome [RCV000293161] Chr1:108877080 [GRCh38]
Chr1:109419702 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-258C>T single nucleotide variant Chudley-McCullough syndrome [RCV000344331]|not specified [RCV000417738] Chr1:108877219 [GRCh38]
Chr1:109419841 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.-357C>T single nucleotide variant Chudley-McCullough syndrome [RCV000388558] Chr1:108877120 [GRCh38]
Chr1:109419742 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-306C>A single nucleotide variant Chudley-McCullough syndrome [RCV000296434] Chr1:108877171 [GRCh38]
Chr1:109419793 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001377458.1(CLCC1):c.*2139A>C single nucleotide variant Chudley-McCullough syndrome [RCV000312911] Chr1:108930408 [GRCh38]
Chr1:109473030 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-441G>C single nucleotide variant Chudley-McCullough syndrome [RCV000261473] Chr1:108877036 [GRCh38]
Chr1:109419658 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.596C>T (p.Ala199Val) single nucleotide variant not provided [RCV000362546] Chr1:108898680 [GRCh38]
Chr1:109441302 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer) indel Chudley-McCullough syndrome [RCV001374666] Chr1:108901850..108901851 [GRCh38]
Chr1:109444472..109444473 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.-245T>A single nucleotide variant Chudley-McCullough syndrome [RCV000399318] Chr1:108885278 [GRCh38]
Chr1:109427900 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001377458.1(CLCC1):c.*2285A>G single nucleotide variant Chudley-McCullough syndrome [RCV000401009] Chr1:108930262 [GRCh38]
Chr1:109472884 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-369G>A single nucleotide variant Chudley-McCullough syndrome [RCV000331669] Chr1:108877108 [GRCh38]
Chr1:109419730 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1473del (p.Phe492fs) deletion Chudley-McCullough syndrome [RCV002282113]|GPSM2-Related Disorders [RCV000380707]|Rare genetic deafness [RCV000607932]|not provided [RCV000224236] Chr1:108922447 [GRCh38]
Chr1:109465069 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_001377458.1(CLCC1):c.*2139dup duplication Nonsyndromic Hearing Loss, Recessive [RCV000338622] Chr1:108930407..108930408 [GRCh38]
Chr1:109473029..109473030 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.882A>G (p.Leu294=) single nucleotide variant Nonsyndromic Hearing Loss, Recessive [RCV000298431] Chr1:108901874 [GRCh38]
Chr1:109444496 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.732A>G (p.Ala244=) single nucleotide variant not specified [RCV000600004] Chr1:108898929 [GRCh38]
Chr1:109441551 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1631C>T (p.Thr544Met) single nucleotide variant not provided [RCV003546581]|not specified [RCV000606191] Chr1:108924030 [GRCh38]
Chr1:109466652 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001377458.1(CLCC1):c.*2248A>C single nucleotide variant Chudley-McCullough syndrome [RCV001099584] Chr1:108930299 [GRCh38]
Chr1:109472921 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001377458.1(CLCC1):c.*2133A>G single nucleotide variant Chudley-McCullough syndrome [RCV001099585] Chr1:108930414 [GRCh38]
Chr1:109473036 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1382C>T (p.Thr461Ile) single nucleotide variant not provided [RCV000730498] Chr1:108918731 [GRCh38]
Chr1:109461353 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.485del (p.Pro162fs) deletion Inborn genetic diseases [RCV002531058]|not provided [RCV000592763] Chr1:108898027 [GRCh38]
Chr1:109440649 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) single nucleotide variant Chudley-McCullough syndrome [RCV001727726]|Hearing loss, autosomal recessive [RCV000454299] Chr1:108903149 [GRCh38]
Chr1:109445771 [GRCh37]
Chr1:1p13.3		 pathogenic
GRCh37/hg19 1p13.3(chr1:109404523-109455803)x1 copy number loss See cases [RCV000446286] Chr1:109404523..109455803 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001377458.1(CLCC1):c.*2600A>G single nucleotide variant Chudley-McCullough syndrome [RCV001097789]|GPSM2-related condition [RCV003902576]|not provided [RCV001721299] Chr1:108929947 [GRCh38]
Chr1:109472569 [GRCh37]
Chr1:1p13.3		 likely benign|uncertain significance
NM_013296.5(GPSM2):c.993A>T (p.Ala331=) single nucleotide variant not specified [RCV000432757] Chr1:108903165 [GRCh38]
Chr1:109445787 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.172C>T (p.Leu58=) single nucleotide variant not provided [RCV003718241]|not specified [RCV000418436] Chr1:108896979 [GRCh38]
Chr1:109439601 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.-248-16T>C single nucleotide variant not specified [RCV000423324] Chr1:108885259 [GRCh38]
Chr1:109427881 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1093C>T (p.Arg365Ter) single nucleotide variant not provided [RCV000483353] Chr1:108904155 [GRCh38]
Chr1:109446777 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) microsatellite GPSM2-related condition [RCV003960132]|Inborn genetic diseases [RCV002526981]|not provided [RCV000657155]|not specified [RCV000486151] Chr1:108898057..108898059 [GRCh38]
Chr1:109440679..109440681 [GRCh37]
Chr1:1p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013296.5(GPSM2):c.1600+3_1600+6del microsatellite not provided [RCV000487382] Chr1:108922575..108922578 [GRCh38]
Chr1:109465197..109465200 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.1553C>T (p.Thr518Ile) single nucleotide variant not specified [RCV000503895] Chr1:108922529 [GRCh38]
Chr1:109465151 [GRCh37]
Chr1:1p13.3		 uncertain significance
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 1p13.3(chr1:109343840-109868178)x3 copy number gain See cases [RCV000510931] Chr1:109343840..109868178 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly) single nucleotide variant Chudley-McCullough syndrome [RCV001101471]|not specified [RCV000603703] Chr1:108903206 [GRCh38]
Chr1:109445828 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.424G>A (p.Ala142Thr) single nucleotide variant Inborn genetic diseases [RCV003280290] Chr1:108897968 [GRCh38]
Chr1:109440590 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) single nucleotide variant not provided [RCV000726962]|not specified [RCV000598197] Chr1:108922462 [GRCh38]
Chr1:109465084 [GRCh37]
Chr1:1p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013296.5(GPSM2):c.2006A>C (p.Asn669Thr) single nucleotide variant Inborn genetic diseases [RCV003287024] Chr1:108929891 [GRCh38]
Chr1:109472513 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1063-19A>G single nucleotide variant not specified [RCV000615339] Chr1:108904106 [GRCh38]
Chr1:109446728 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1560AAC[2] (p.Thr523del) microsatellite Chudley-McCullough syndrome [RCV003117419]|not provided [RCV000840081]|not specified [RCV000612816] Chr1:108922535..108922537 [GRCh38]
Chr1:109465157..109465159 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.953+11C>T single nucleotide variant not provided [RCV002531579]|not specified [RCV000600555] Chr1:108901956 [GRCh38]
Chr1:109444578 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.765T>G (p.Leu255=) single nucleotide variant not specified [RCV000616349] Chr1:108898962 [GRCh38]
Chr1:109441584 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.558-11C>T single nucleotide variant not provided [RCV001707783] Chr1:108898631 [GRCh38]
Chr1:109441253 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1872G>A (p.Pro624=) single nucleotide variant not specified [RCV000608941] Chr1:108929757 [GRCh38]
Chr1:109472379 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.414+8C>T single nucleotide variant not specified [RCV000611703] Chr1:108897635 [GRCh38]
Chr1:109440257 [GRCh37]
Chr1:1p13.3		 likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) single nucleotide variant Chudley-McCullough syndrome [RCV001727767]|GPSM2-Related Disorders [RCV000778934]|Rare genetic deafness [RCV000604753]|not provided [RCV000760407] Chr1:108922468 [GRCh38]
Chr1:109465090 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
NM_013296.5(GPSM2):c.1393C>T (p.Gln465Ter) single nucleotide variant not provided [RCV000514509] Chr1:108918742 [GRCh38]
Chr1:109461364 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) single nucleotide variant Chudley-McCullough syndrome [RCV000714787] Chr1:108896931 [GRCh38]
Chr1:109439553 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) single nucleotide variant Deafness [RCV000679817]|Hearing loss, autosomal recessive [RCV001291335] Chr1:108896945 [GRCh38]
Chr1:109439567 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3 copy number gain not provided [RCV000709949] Chr1:109428017..109779697 [GRCh37]
Chr1:1p13.3		 not provided
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
NM_013296.5(GPSM2):c.1263+121C>T single nucleotide variant not provided [RCV001541109] Chr1:108914529 [GRCh38]
Chr1:109457151 [GRCh37]
Chr1:1p13.3		 benign
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2		 likely pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3		 pathogenic
GRCh37/hg19 1p13.3(chr1:109406422-109453129)x1 copy number loss not provided [RCV000749137] Chr1:109406422..109453129 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:109428249-109789795)x3 copy number gain not provided [RCV000749138] Chr1:109428249..109789795 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.954-19G>T single nucleotide variant not provided [RCV001586604] Chr1:108903107 [GRCh38]
Chr1:109445729 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013296.5(GPSM2):c.1601-30dup duplication not provided [RCV001571662] Chr1:108923961..108923962 [GRCh38]
Chr1:109466583..109466584 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.56+49G>A single nucleotide variant not provided [RCV001680931] Chr1:108885627 [GRCh38]
Chr1:109428249 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1194_1198dup (p.Arg400fs) duplication not provided [RCV000994060] Chr1:108914338..108914339 [GRCh38]
Chr1:109456960..109456961 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.1665G>C (p.Gln555His) single nucleotide variant Chudley-McCullough syndrome [RCV001096015] Chr1:108924064 [GRCh38]
Chr1:109466686 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1264-6T>C single nucleotide variant not provided [RCV001574683] Chr1:108918607 [GRCh38]
Chr1:109461229 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.56+155T>C single nucleotide variant not provided [RCV001549768] Chr1:108885733 [GRCh38]
Chr1:109428355 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys) single nucleotide variant not provided [RCV000904301] Chr1:108898049 [GRCh38]
Chr1:109440671 [GRCh37]
Chr1:1p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) single nucleotide variant Chudley-McCullough syndrome [RCV001099473]|not provided [RCV000905748] Chr1:108901825 [GRCh38]
Chr1:109444447 [GRCh37]
Chr1:1p13.3		 benign|likely benign|uncertain significance
NM_013296.5(GPSM2):c.558-7C>T single nucleotide variant not provided [RCV000904174] Chr1:108898635 [GRCh38]
Chr1:109441257 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1501del (p.Ser501fs) deletion Chudley-McCullough syndrome [RCV001072143] Chr1:108922475 [GRCh38]
Chr1:109465097 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
NM_013296.5(GPSM2):c.1063-4G>C single nucleotide variant not specified [RCV000825766] Chr1:108904121 [GRCh38]
Chr1:109446743 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.-248-1G>A single nucleotide variant Chudley-McCullough syndrome [RCV000778932] Chr1:108885274 [GRCh38]
Chr1:109427896 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.414+9G>A single nucleotide variant not provided [RCV000916394] Chr1:108897636 [GRCh38]
Chr1:109440258 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.805C>T (p.Leu269=) single nucleotide variant GPSM2-related condition [RCV003958401]|not provided [RCV000917840] Chr1:108901797 [GRCh38]
Chr1:109444419 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.130G>C (p.Val44Leu) single nucleotide variant Inborn genetic diseases [RCV003271800] Chr1:108896937 [GRCh38]
Chr1:109439559 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1815+22G>A single nucleotide variant Chudley-McCullough syndrome [RCV001702734]|not provided [RCV000841744] Chr1:108924236 [GRCh38]
Chr1:109466858 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.818G>A (p.Arg273Gln) single nucleotide variant not provided [RCV001856269]|not specified [RCV000825345] Chr1:108901810 [GRCh38]
Chr1:109444432 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1062+97A>G single nucleotide variant not provided [RCV000836437] Chr1:108903331 [GRCh38]
Chr1:109445953 [GRCh37]
Chr1:1p13.3		 benign
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.1815+244G>T single nucleotide variant not provided [RCV000841745] Chr1:108924458 [GRCh38]
Chr1:109467080 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1192+248C>G single nucleotide variant not provided [RCV000841827] Chr1:108904502 [GRCh38]
Chr1:109447124 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1263+221T>G single nucleotide variant not provided [RCV000841834] Chr1:108914629 [GRCh38]
Chr1:109457251 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.279-6T>C single nucleotide variant Chudley-McCullough syndrome [RCV001097696] Chr1:108897486 [GRCh38]
Chr1:109440108 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001377458.1(CLCC1):c.*2399T>C single nucleotide variant Chudley-McCullough syndrome [RCV001097790] Chr1:108930148 [GRCh38]
Chr1:109472770 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn) single nucleotide variant Chudley-McCullough syndrome [RCV001096016]|not provided [RCV001585979] Chr1:108924093 [GRCh38]
Chr1:109466715 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001377458.1(CLCC1):c.*2856T>C single nucleotide variant Chudley-McCullough syndrome [RCV001096017] Chr1:108929691 [GRCh38]
Chr1:109472313 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr) single nucleotide variant Chudley-McCullough syndrome [RCV001097695]|not specified [RCV001819802] Chr1:108897081 [GRCh38]
Chr1:109439703 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1264-272C>T single nucleotide variant not provided [RCV000843477] Chr1:108918341 [GRCh38]
Chr1:109460963 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1062+189C>G single nucleotide variant not provided [RCV000841226] Chr1:108903423 [GRCh38]
Chr1:109446045 [GRCh37]
Chr1:1p13.3		 benign
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3		 not provided
NM_013296.5(GPSM2):c.1193-110G>A single nucleotide variant not provided [RCV000841742] Chr1:108914228 [GRCh38]
Chr1:109456850 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1601-25T>C single nucleotide variant not provided [RCV000841743] Chr1:108923975 [GRCh38]
Chr1:109466597 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:109425142-109703243)x3 copy number gain not provided [RCV000846908] Chr1:109425142..109703243 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.361G>C (p.Ala121Pro) single nucleotide variant not provided [RCV000994059] Chr1:108897574 [GRCh38]
Chr1:109440196 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.36T>C (p.His12=) single nucleotide variant not provided [RCV003239171] Chr1:108885558 [GRCh38]
Chr1:109428180 [GRCh37]
Chr1:1p13.3		 uncertain significance
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.953+294G>T single nucleotide variant not provided [RCV001636276] Chr1:108902239 [GRCh38]
Chr1:109444861 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.953+231A>G single nucleotide variant not provided [RCV001725635] Chr1:108902176 [GRCh38]
Chr1:109444798 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1263+108A>C single nucleotide variant not provided [RCV001717634] Chr1:108914516 [GRCh38]
Chr1:109457138 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1062+52G>C single nucleotide variant not provided [RCV001590047] Chr1:108903286 [GRCh38]
Chr1:109445908 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1871C>T (p.Pro624Leu) single nucleotide variant not provided [RCV001577719] Chr1:108929756 [GRCh38]
Chr1:109472378 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-248-179C>G single nucleotide variant not provided [RCV001530701] Chr1:108885096 [GRCh38]
Chr1:109427718 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1782T>G (p.Asp594Glu) single nucleotide variant not provided [RCV001559535] Chr1:108924181 [GRCh38]
Chr1:109466803 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1468G>A (p.Glu490Lys) single nucleotide variant Inborn genetic diseases [RCV003355518]|not provided [RCV001552817] Chr1:108922444 [GRCh38]
Chr1:109465066 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.697A>G (p.Lys233Glu) single nucleotide variant GPSM2-related condition [RCV003960716]|not provided [RCV000961887] Chr1:108898894 [GRCh38]
Chr1:109441516 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1401C>T (p.Ala467=) single nucleotide variant not provided [RCV000952297] Chr1:108918750 [GRCh38]
Chr1:109461372 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.807A>G (p.Leu269=) single nucleotide variant Chudley-McCullough syndrome [RCV001099472] Chr1:108901799 [GRCh38]
Chr1:109444421 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.953+12G>A single nucleotide variant Chudley-McCullough syndrome [RCV001099474] Chr1:108901957 [GRCh38]
Chr1:109444579 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1062+52G>A single nucleotide variant not provided [RCV001562733] Chr1:108903286 [GRCh38]
Chr1:109445908 [GRCh37]
Chr1:1p13.3		 likely benign
GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3 copy number gain not provided [RCV002473471] Chr1:109350810..109838970 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1208T>C (p.Leu403Ser) single nucleotide variant Chudley-McCullough syndrome [RCV002488377]|Inborn genetic diseases [RCV002568374]|not provided [RCV001558136] Chr1:108914353 [GRCh38]
Chr1:109456975 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1195G>C (p.Val399Leu) single nucleotide variant not provided [RCV001558812] Chr1:108914340 [GRCh38]
Chr1:109456962 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.56+145dup duplication not provided [RCV001677846] Chr1:108885722..108885723 [GRCh38]
Chr1:109428344..109428345 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1815+221GT[5] microsatellite not provided [RCV001552744] Chr1:108924435..108924438 [GRCh38]
Chr1:109467057..109467060 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1815+233G>A single nucleotide variant not provided [RCV001676578] Chr1:108924447 [GRCh38]
Chr1:109467069 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.57-86C>T single nucleotide variant not provided [RCV001620258] Chr1:108896778 [GRCh38]
Chr1:109439400 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1600+30T>A single nucleotide variant not provided [RCV001565193] Chr1:108922606 [GRCh38]
Chr1:109465228 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.798-42A>T single nucleotide variant not provided [RCV001617975] Chr1:108901748 [GRCh38]
Chr1:109444370 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.954-42T>G single nucleotide variant not provided [RCV001635909] Chr1:108903084 [GRCh38]
Chr1:109445706 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.-453C>T single nucleotide variant Chudley-McCullough syndrome [RCV001101357] Chr1:108877024 [GRCh38]
Chr1:109419646 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.597G>A (p.Ala199=) single nucleotide variant Chudley-McCullough syndrome [RCV001099471]|not provided [RCV002069670] Chr1:108898681 [GRCh38]
Chr1:109441303 [GRCh37]
Chr1:1p13.3		 likely benign|uncertain significance
NM_013296.5(GPSM2):c.57-124C>T single nucleotide variant not provided [RCV001614856] Chr1:108896740 [GRCh38]
Chr1:109439362 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:109396970-109807574)x1 copy number loss not provided [RCV001005129] Chr1:109396970..109807574 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-316C>T single nucleotide variant Chudley-McCullough syndrome [RCV001095913] Chr1:108877161 [GRCh38]
Chr1:109419783 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.-288C>A single nucleotide variant Chudley-McCullough syndrome [RCV001095914] Chr1:108877189 [GRCh38]
Chr1:109419811 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) single nucleotide variant Chudley-McCullough syndrome [RCV001096014]|Inborn genetic diseases [RCV002555980]|not provided [RCV001288621] Chr1:108922448 [GRCh38]
Chr1:109465070 [GRCh37]
Chr1:1p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001377458.1(CLCC1):c.*2256G>A single nucleotide variant Chudley-McCullough syndrome [RCV001097791] Chr1:108930291 [GRCh38]
Chr1:109472913 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3 copy number gain not provided [RCV001258447] Chr1:108769288..109425488 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
NM_013296.5(GPSM2):c.557+3G>C single nucleotide variant not provided [RCV001325320] Chr1:108898104 [GRCh38]
Chr1:109440726 [GRCh37]
Chr1:1p13.3		 uncertain significance
NC_000001.10:g.(?_109428145)_(109816671_?)dup duplication not provided [RCV001308191] Chr1:109428145..109816671 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1264-1G>T single nucleotide variant Chudley-McCullough syndrome [RCV001807949] Chr1:108918612 [GRCh38]
Chr1:109461234 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.1571C>T (p.Ser524Phe) single nucleotide variant not provided [RCV001288622] Chr1:108922547 [GRCh38]
Chr1:109465169 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1420C>T (p.Arg474Ter) single nucleotide variant Chudley-McCullough syndrome [RCV001333696] Chr1:108918769 [GRCh38]
Chr1:109461391 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.1062+284G>A single nucleotide variant not provided [RCV001586884] Chr1:108903518 [GRCh38]
Chr1:109446140 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1441-296A>G single nucleotide variant not provided [RCV001693776] Chr1:108922121 [GRCh38]
Chr1:109464743 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.1601-59TTTTTTG[2] microsatellite not provided [RCV001681120] Chr1:108923941..108923947 [GRCh38]
Chr1:109466563..109466569 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.557+2T>C single nucleotide variant not provided [RCV001379746] Chr1:108898103 [GRCh38]
Chr1:109440725 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.832C>T (p.Arg278Ter) single nucleotide variant Chudley-McCullough syndrome [RCV001728014] Chr1:108901824 [GRCh38]
Chr1:109444446 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.23T>C (p.Met8Thr) single nucleotide variant not provided [RCV001754871] Chr1:108885545 [GRCh38]
Chr1:109428167 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1815+2T>C single nucleotide variant not provided [RCV002246202] Chr1:108924216 [GRCh38]
Chr1:109466838 [GRCh37]
Chr1:1p13.3		 not provided
NM_013296.5(GPSM2):c.1213C>T (p.Arg405Cys) single nucleotide variant not provided [RCV001765039] Chr1:108914358 [GRCh38]
Chr1:109456980 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1493G>A (p.Arg498Gln) single nucleotide variant not provided [RCV001768451] Chr1:108922469 [GRCh38]
Chr1:109465091 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.668T>C (p.Ile223Thr) single nucleotide variant not provided [RCV001772972] Chr1:108898752 [GRCh38]
Chr1:109441374 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.129C>T (p.Gly43=) single nucleotide variant not provided [RCV001774062] Chr1:108896936 [GRCh38]
Chr1:109439558 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1748G>A (p.Ser583Asn) single nucleotide variant not provided [RCV001752570] Chr1:108924147 [GRCh38]
Chr1:109466769 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.414+4A>G single nucleotide variant not provided [RCV001769005] Chr1:108897631 [GRCh38]
Chr1:109440253 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1473_1474delinsAACC (p.Phe492fs) indel Chudley-McCullough syndrome [RCV001782231] Chr1:108922449..108922450 [GRCh38]
Chr1:109465071..109465072 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.1601-2A>G single nucleotide variant Chudley-McCullough syndrome [RCV001782230] Chr1:108923998 [GRCh38]
Chr1:109466620 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.1601-38T>G single nucleotide variant not provided [RCV001787652] Chr1:108923962 [GRCh38]
Chr1:109466584 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.605G>A (p.Gly202Glu) single nucleotide variant not provided [RCV001799842] Chr1:108898689 [GRCh38]
Chr1:109441311 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.2004T>G (p.Asn668Lys) single nucleotide variant not provided [RCV002541979]|not specified [RCV001817229] Chr1:108929889 [GRCh38]
Chr1:109472511 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1094G>T (p.Arg365Leu) single nucleotide variant not provided [RCV002001701] Chr1:108904156 [GRCh38]
Chr1:109446778 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.731C>T (p.Ala244Val) single nucleotide variant Inborn genetic diseases [RCV003375368]|not provided [RCV001837653] Chr1:108898928 [GRCh38]
Chr1:109441550 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1669C>T (p.Arg557Cys) single nucleotide variant not provided [RCV001987303] Chr1:108924068 [GRCh38]
Chr1:109466690 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1094G>A (p.Arg365Gln) single nucleotide variant not provided [RCV002008047] Chr1:108904156 [GRCh38]
Chr1:109446778 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3(chr1:109396970-109807574) copy number gain not specified [RCV002053580] Chr1:109396970..109807574 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3(chr1:109404523-109455803) copy number loss not specified [RCV002053591] Chr1:109404523..109455803 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1718G>A (p.Arg573His) single nucleotide variant not provided [RCV001911900] Chr1:108924117 [GRCh38]
Chr1:109466739 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1062+3A>G single nucleotide variant not provided [RCV001947924] Chr1:108903237 [GRCh38]
Chr1:109445859 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.50G>A (p.Arg17His) single nucleotide variant not provided [RCV001913393] Chr1:108885572 [GRCh38]
Chr1:109428194 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1 copy number loss not provided [RCV001827629] Chr1:108346477..110177123 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.844G>T (p.Ala282Ser) single nucleotide variant not provided [RCV002020144] Chr1:108901836 [GRCh38]
Chr1:109444458 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys) single nucleotide variant Chudley-McCullough syndrome [RCV002484627]|not provided [RCV001952681] Chr1:108897571 [GRCh38]
Chr1:109440193 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1501A>G (p.Ser501Gly) single nucleotide variant not provided [RCV001878779] Chr1:108922477 [GRCh38]
Chr1:109465099 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1440+4C>T single nucleotide variant GPSM2-related condition [RCV003892894]|not provided [RCV001866378] Chr1:108918793 [GRCh38]
Chr1:109461415 [GRCh37]
Chr1:1p13.3		 likely benign|uncertain significance
NM_013296.5(GPSM2):c.1870C>T (p.Pro624Ser) single nucleotide variant not provided [RCV001975909] Chr1:108929755 [GRCh38]
Chr1:109472377 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1217G>A (p.Arg406Gln) single nucleotide variant not provided [RCV001933869] Chr1:108914362 [GRCh38]
Chr1:109456984 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.953+18T>G single nucleotide variant not provided [RCV002146036] Chr1:108901963 [GRCh38]
Chr1:109444585 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1062+17A>C single nucleotide variant not provided [RCV002175047] Chr1:108903251 [GRCh38]
Chr1:109445873 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1600+10C>T single nucleotide variant GPSM2-related condition [RCV003951172]|not provided [RCV002094263] Chr1:108922586 [GRCh38]
Chr1:109465208 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1575C>T (p.Ser525=) single nucleotide variant not provided [RCV002080477] Chr1:108922551 [GRCh38]
Chr1:109465173 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.459T>C (p.His153=) single nucleotide variant not provided [RCV002218062] Chr1:108898003 [GRCh38]
Chr1:109440625 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.690T>G (p.Leu230=) single nucleotide variant not provided [RCV002083746] Chr1:108898887 [GRCh38]
Chr1:109441509 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1600+12C>T single nucleotide variant not provided [RCV002177989] Chr1:108922588 [GRCh38]
Chr1:109465210 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.636T>C (p.His212=) single nucleotide variant not provided [RCV002123753] Chr1:108898720 [GRCh38]
Chr1:109441342 [GRCh37]
Chr1:1p13.3		 likely benign
NC_000001.10:g.(?_108679275)_(109493059_?)del deletion not provided [RCV003122418] Chr1:108679275..109493059 [GRCh37]
Chr1:1p13.3		 uncertain significance
NC_000001.10:g.(?_109428145)_(109817590_?)dup duplication not provided [RCV003122419] Chr1:109428145..109817590 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.2042C>T (p.Ser681Leu) single nucleotide variant See cases [RCV002253120]|not provided [RCV003443015] Chr1:108929927 [GRCh38]
Chr1:109472549 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1080_1081del (p.Glu361fs) deletion not provided [RCV002265072] Chr1:108904141..108904142 [GRCh38]
Chr1:109446763..109446764 [GRCh37]
Chr1:1p13.3		 pathogenic|likely pathogenic
NM_013296.5(GPSM2):c.1119G>A (p.Met373Ile) single nucleotide variant not provided [RCV002265340] Chr1:108904181 [GRCh38]
Chr1:109446803 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.286G>A (p.Gly96Arg) single nucleotide variant not provided [RCV002267521] Chr1:108897499 [GRCh38]
Chr1:109440121 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.952A>T (p.Arg318Ter) single nucleotide variant not provided [RCV002285608] Chr1:108901944 [GRCh38]
Chr1:109444566 [GRCh37]
Chr1:1p13.3		 likely pathogenic
GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3 copy number gain not provided [RCV002474651] Chr1:109396971..109807574 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3 copy number gain not provided [RCV002474707] Chr1:109371874..109906234 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.2041T>C (p.Ser681Pro) single nucleotide variant not provided [RCV002461631] Chr1:108929926 [GRCh38]
Chr1:109472548 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1609G>A (p.Val537Ile) single nucleotide variant Inborn genetic diseases [RCV002818029] Chr1:108924008 [GRCh38]
Chr1:109466630 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.319A>G (p.Asn107Asp) single nucleotide variant not provided [RCV003013684] Chr1:108897532 [GRCh38]
Chr1:109440154 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.558-9A>G single nucleotide variant not provided [RCV002685549] Chr1:108898633 [GRCh38]
Chr1:109441255 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1403G>A (p.Ser468Asn) single nucleotide variant Inborn genetic diseases [RCV002793355] Chr1:108918752 [GRCh38]
Chr1:109461374 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1574C>G (p.Ser525Cys) single nucleotide variant Inborn genetic diseases [RCV002692495] Chr1:108922550 [GRCh38]
Chr1:109465172 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.797+10A>G single nucleotide variant not provided [RCV002705382] Chr1:108899004 [GRCh38]
Chr1:109441626 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.997A>G (p.Thr333Ala) single nucleotide variant not provided [RCV002820241] Chr1:108903169 [GRCh38]
Chr1:109445791 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.438C>T (p.Tyr146=) single nucleotide variant not provided [RCV002695483] Chr1:108897982 [GRCh38]
Chr1:109440604 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1712G>A (p.Gly571Glu) single nucleotide variant Inborn genetic diseases [RCV002693288] Chr1:108924111 [GRCh38]
Chr1:109466733 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1202C>T (p.Pro401Leu) single nucleotide variant Inborn genetic diseases [RCV002925189] Chr1:108914347 [GRCh38]
Chr1:109456969 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1421G>A (p.Arg474Gln) single nucleotide variant not provided [RCV003005864] Chr1:108918770 [GRCh38]
Chr1:109461392 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.257A>G (p.His86Arg) single nucleotide variant not provided [RCV002642755] Chr1:108897064 [GRCh38]
Chr1:109439686 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1058G>A (p.Arg353Lys) single nucleotide variant not provided [RCV002643937] Chr1:108903230 [GRCh38]
Chr1:109445852 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1769A>G (p.Asn590Ser) single nucleotide variant not provided [RCV002594226] Chr1:108924168 [GRCh38]
Chr1:109466790 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1727A>T (p.Gln576Leu) single nucleotide variant Inborn genetic diseases [RCV002916023] Chr1:108924126 [GRCh38]
Chr1:109466748 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1062+15A>G single nucleotide variant not provided [RCV002601918] Chr1:108903249 [GRCh38]
Chr1:109445871 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1199G>A (p.Arg400His) single nucleotide variant not provided [RCV002966911] Chr1:108914344 [GRCh38]
Chr1:109456966 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1460T>C (p.Ile487Thr) single nucleotide variant not provided [RCV002577116] Chr1:108922436 [GRCh38]
Chr1:109465058 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1972_1973dup (p.Asp659fs) microsatellite not provided [RCV002631209] Chr1:108929854..108929855 [GRCh38]
Chr1:109472476..109472477 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.580G>T (p.Ala194Ser) single nucleotide variant Inborn genetic diseases [RCV002810165]|not provided [RCV002810164] Chr1:108898664 [GRCh38]
Chr1:109441286 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1717C>T (p.Arg573Cys) single nucleotide variant Inborn genetic diseases [RCV003274246]|not provided [RCV002581917] Chr1:108924116 [GRCh38]
Chr1:109466738 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1350G>A (p.Leu450=) single nucleotide variant not provided [RCV002590024] Chr1:108918699 [GRCh38]
Chr1:109461321 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.121C>T (p.Arg41Cys) single nucleotide variant not provided [RCV002635753] Chr1:108896928 [GRCh38]
Chr1:109439550 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1815+7_1815+10dup duplication not provided [RCV002585512] Chr1:108924217..108924218 [GRCh38]
Chr1:109466839..109466840 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1626C>T (p.Pro542=) single nucleotide variant not provided [RCV002612787] Chr1:108924025 [GRCh38]
Chr1:109466647 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1649T>A (p.Leu550His) single nucleotide variant Inborn genetic diseases [RCV003218286] Chr1:108924048 [GRCh38]
Chr1:109466670 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.674A>C (p.His225Pro) single nucleotide variant Inborn genetic diseases [RCV003209355] Chr1:108898758 [GRCh38]
Chr1:109441380 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1240C>T (p.Leu414Phe) single nucleotide variant Inborn genetic diseases [RCV003193226] Chr1:108914385 [GRCh38]
Chr1:109457007 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs) microsatellite Chudley-McCullough syndrome [RCV003135440] Chr1:108929822..108929823 [GRCh38]
Chr1:109472444..109472445 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.238A>G (p.Lys80Glu) single nucleotide variant not provided [RCV003224020] Chr1:108897045 [GRCh38]
Chr1:109439667 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.622C>T (p.Leu208Phe) single nucleotide variant not provided [RCV003325699] Chr1:108898706 [GRCh38]
Chr1:109441328 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1017T>A (p.Asp339Glu) single nucleotide variant Inborn genetic diseases [RCV003361694] Chr1:108903189 [GRCh38]
Chr1:109445811 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.681+1G>A single nucleotide variant Chudley-McCullough syndrome [RCV003456354] Chr1:108898766 [GRCh38]
Chr1:109441388 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.1404T>C (p.Ser468=) single nucleotide variant not provided [RCV003825769] Chr1:108918753 [GRCh38]
Chr1:109461375 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.681+2del deletion not provided [RCV003569800] Chr1:108898767 [GRCh38]
Chr1:109441389 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.455A>C (p.Tyr152Ser) single nucleotide variant not provided [RCV003443740] Chr1:108897999 [GRCh38]
Chr1:109440621 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1504A>C (p.Asn502His) single nucleotide variant not provided [RCV003442675] Chr1:108922480 [GRCh38]
Chr1:109465102 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.1263+19G>T single nucleotide variant not provided [RCV003882546] Chr1:108914427 [GRCh38]
Chr1:109457049 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1600+3A>C single nucleotide variant Chudley-McCullough syndrome [RCV003487106] Chr1:108922579 [GRCh38]
Chr1:109465201 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.998dup (p.Ala334fs) duplication not provided [RCV003661362] Chr1:108903169..108903170 [GRCh38]
Chr1:109445791..109445792 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013296.5(GPSM2):c.826A>C (p.Lys276Gln) single nucleotide variant not provided [RCV003557894] Chr1:108901818 [GRCh38]
Chr1:109444440 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.279-12del deletion not provided [RCV003817621] Chr1:108897475 [GRCh38]
Chr1:109440097 [GRCh37]
Chr1:1p13.3		 benign
NM_013296.5(GPSM2):c.924C>T (p.His308=) single nucleotide variant not provided [RCV003840413] Chr1:108901916 [GRCh38]
Chr1:109444538 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1263+19G>A single nucleotide variant not provided [RCV003671123] Chr1:108914427 [GRCh38]
Chr1:109457049 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.681+11A>G single nucleotide variant not provided [RCV003835339] Chr1:108898776 [GRCh38]
Chr1:109441398 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1815+15T>C single nucleotide variant not provided [RCV003844310] Chr1:108924229 [GRCh38]
Chr1:109466851 [GRCh37]
Chr1:1p13.3		 likely benign
GRCh37/hg19 1p13.3(chr1:109367168-109429175)x3 copy number gain not specified [RCV003986662] Chr1:109367168..109429175 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3 copy number gain not specified [RCV003987061] Chr1:109402942..109807574 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3 copy number gain not specified [RCV003986828] Chr1:109255293..109812358 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013296.5(GPSM2):c.797+9A>G single nucleotide variant not provided [RCV003844758] Chr1:108899003 [GRCh38]
Chr1:109441625 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.1821C>T (p.Ser607=) single nucleotide variant GPSM2-related condition [RCV003969542] Chr1:108929706 [GRCh38]
Chr1:109472328 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013296.5(GPSM2):c.414+2T>C single nucleotide variant GPSM2-related condition [RCV003899768] Chr1:108897629 [GRCh38]
Chr1:109440251 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013296.5(GPSM2):c.1983G>C (p.Gly661=) single nucleotide variant GPSM2-related condition [RCV003899234] Chr1:108929868 [GRCh38]
Chr1:109472490 [GRCh37]
Chr1:1p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1854
Count of miRNA genes:826
Interacting mature miRNAs:940
Transcripts:ENST00000264126, ENST00000406462, ENST00000435475, ENST00000435987, ENST00000441735, ENST00000446797
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.

Markers in Region
RH71239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,472,420 - 109,472,552UniSTSGRCh37
Build 361109,273,943 - 109,274,075RGDNCBI36
Celera1107,741,978 - 107,742,110RGD
Cytogenetic Map1p13.3UniSTS
HuRef1107,365,281 - 107,365,413UniSTS
RH98217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,473,943 - 109,474,120UniSTSGRCh37
Build 361109,275,466 - 109,275,643RGDNCBI36
Celera1107,743,501 - 107,743,678RGD
Cytogenetic Map1p13.3UniSTS
HuRef1107,366,804 - 107,366,981UniSTS
GeneMap99-GB4 RH Map1337.19UniSTS
SHGC-37685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,474,105 - 109,474,245UniSTSGRCh37
Build 361109,275,628 - 109,275,768RGDNCBI36
Celera1107,743,663 - 107,743,803RGD
Cytogenetic Map1p13.3UniSTS
HuRef1107,366,966 - 107,367,106UniSTS
Stanford-G3 RH Map15102.0UniSTS
GeneMap99-G3 RH Map15058.0UniSTS
GPSM2_9599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,472,380 - 109,473,220UniSTSGRCh37
Build 361109,273,903 - 109,274,743RGDNCBI36
Celera1107,741,938 - 107,742,778RGD
HuRef1107,365,241 - 107,366,081UniSTS
SHGC-75299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371109,476,208 - 109,476,390UniSTSGRCh37
Build 361109,277,731 - 109,277,913RGDNCBI36
Celera1107,745,620 - 107,745,802RGD
Cytogenetic Map1p13.3UniSTS
HuRef1107,369,069 - 107,369,251UniSTS
TNG Radiation Hybrid Map159538.0UniSTS
GeneMap99-GB4 RH Map1341.58UniSTS
D17S1136  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p32.3UniSTS
GDB:313261  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map4q12UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D13S1568  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.3UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS


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 1172 15 32 50 222 22 1706 695 1059 78 424 434 40 39 1017 3
Low 1267 2741 1657 539 1594 409 2650 1405 2674 332 1036 1177 135 1 1165 1770 3 1
Below cutoff 235 36 34 135 33 1 97 1 9 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB445462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI224972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY136740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC341689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC365139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX085485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U54999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264126   ⟹   ENSP00000264126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,985 - 108,934,545 (+)Ensembl
RefSeq Acc Id: ENST00000406462   ⟹   ENSP00000385510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,875,350 - 108,934,545 (+)Ensembl
RefSeq Acc Id: ENST00000435475   ⟹   ENSP00000401948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,877,256 - 108,897,032 (+)Ensembl
RefSeq Acc Id: ENST00000435987   ⟹   ENSP00000408664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,981 - 108,898,724 (+)Ensembl
RefSeq Acc Id: ENST00000441735   ⟹   ENSP00000390629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,979 - 108,924,361 (+)Ensembl
RefSeq Acc Id: ENST00000446797   ⟹   ENSP00000392138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,884,821 - 108,930,377 (+)Ensembl
RefSeq Acc Id: ENST00000642355   ⟹   ENSP00000496104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,981 - 108,934,335 (+)Ensembl
RefSeq Acc Id: ENST00000643094   ⟹   ENSP00000495317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,877,003 - 108,897,086 (+)Ensembl
RefSeq Acc Id: ENST00000643643   ⟹   ENSP00000495168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,901,904 - 108,926,890 (+)Ensembl
RefSeq Acc Id: ENST00000643921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,903,170 - 108,909,981 (+)Ensembl
RefSeq Acc Id: ENST00000645164   ⟹   ENSP00000496756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,982 - 108,930,382 (+)Ensembl
RefSeq Acc Id: ENST00000645255   ⟹   ENSP00000494056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,897,536 - 108,904,225 (+)Ensembl
RefSeq Acc Id: ENST00000674663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,885,475 - 108,891,064 (+)Ensembl
RefSeq Acc Id: ENST00000674700   ⟹   ENSP00000501743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,877,003 - 108,930,377 (+)Ensembl
RefSeq Acc Id: ENST00000674731   ⟹   ENSP00000502401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,993 - 108,931,617 (+)Ensembl
RefSeq Acc Id: ENST00000674914   ⟹   ENSP00000501579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,993 - 108,930,239 (+)Ensembl
RefSeq Acc Id: ENST00000675086   ⟹   ENSP00000502476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,877,135 - 108,930,711 (+)Ensembl
RefSeq Acc Id: ENST00000675087   ⟹   ENSP00000502020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,877,159 - 108,930,367 (+)Ensembl
RefSeq Acc Id: ENST00000675617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,877,159 - 108,915,188 (+)Ensembl
RefSeq Acc Id: ENST00000675740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,903,288 - 108,930,377 (+)Ensembl
RefSeq Acc Id: ENST00000675776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,982 - 108,909,748 (+)Ensembl
RefSeq Acc Id: ENST00000675829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,960 - 108,903,759 (+)Ensembl
RefSeq Acc Id: ENST00000676184   ⟹   ENSP00000502178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,877,146 - 108,930,377 (+)Ensembl
RefSeq Acc Id: ENST00000676404   ⟹   ENSP00000502346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,876,988 - 108,929,811 (+)Ensembl
RefSeq Acc Id: NM_001321038   ⟹   NP_001307967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
CHM1_11109,534,554 - 109,587,989 (+)NCBI
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321039   ⟹   NP_001307968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,363 (+)NCBI
CHM1_11109,534,554 - 109,591,902 (+)NCBI
T2T-CHM13v2.01108,910,322 - 108,967,719 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013296   ⟹   NP_037428
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
GRCh371109,417,972 - 109,473,044 (+)NCBI
Build 361109,221,350 - 109,274,546 (+)NCBI Archive
HuRef1107,312,482 - 107,365,905 (+)ENTREZGENE
CHM1_11109,534,554 - 109,587,989 (+)NCBI
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710589   ⟹   XP_006710652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541302   ⟹   XP_011539604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541303   ⟹   XP_011539605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,918,578 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001097   ⟹   XP_016856586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001098   ⟹   XP_016856587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418723   ⟹   XP_047274679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
RefSeq Acc Id: XM_047418724   ⟹   XP_047274680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,934,545 (+)NCBI
RefSeq Acc Id: XM_054336184   ⟹   XP_054192159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
RefSeq Acc Id: XM_054336185   ⟹   XP_054192160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
RefSeq Acc Id: XM_054336186   ⟹   XP_054192161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
RefSeq Acc Id: XM_054336187   ⟹   XP_054192162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
RefSeq Acc Id: XM_054336188   ⟹   XP_054192163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
RefSeq Acc Id: XM_054336189   ⟹   XP_054192164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,910,322 - 108,967,901 (+)NCBI
RefSeq Acc Id: XM_054336190   ⟹   XP_054192165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,910,322 - 108,951,935 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001307967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307968 (Get FASTA)   NCBI Sequence Viewer  
  NP_037428 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710652 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539604 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539605 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856586 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856587 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274679 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192160 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192161 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192162 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192165 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB40385 (Get FASTA)   NCBI Sequence Viewer  
  AAH27732 (Get FASTA)   NCBI Sequence Viewer  
  AAN01266 (Get FASTA)   NCBI Sequence Viewer  
  BAG36915 (Get FASTA)   NCBI Sequence Viewer  
  BAG58463 (Get FASTA)   NCBI Sequence Viewer  
  BAH84760 (Get FASTA)   NCBI Sequence Viewer  
  CAG33067 (Get FASTA)   NCBI Sequence Viewer  
  EAW56340 (Get FASTA)   NCBI Sequence Viewer  
  EAW56341 (Get FASTA)   NCBI Sequence Viewer  
  EAW56342 (Get FASTA)   NCBI Sequence Viewer  
  EAW56343 (Get FASTA)   NCBI Sequence Viewer  
  EAW56344 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264126
  ENSP00000264126.3
  ENSP00000385510.1
  ENSP00000390629.2
  ENSP00000392138
  ENSP00000392138.2
  ENSP00000401948.1
  ENSP00000408664.1
  ENSP00000494056.1
  ENSP00000495168.1
  ENSP00000495317.1
  ENSP00000496104
  ENSP00000496104.1
  ENSP00000496756
  ENSP00000496756.2
  ENSP00000501579
  ENSP00000501579.1
  ENSP00000501743.1
  ENSP00000502020.1
  ENSP00000502178
  ENSP00000502178.1
  ENSP00000502346.1
  ENSP00000502401
  ENSP00000502401.1
  ENSP00000502476.1
GenBank Protein P81274 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_037428   ⟸   NM_013296
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   B2RAL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710652   ⟸   XM_006710589
- Peptide Label: isoform X2
- UniProtKB: B2RAL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539605   ⟸   XM_011541303
- Peptide Label: isoform X3
- UniProtKB: A0A6Q8PGS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539604   ⟸   XM_011541302
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   B2RAL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307968   ⟸   NM_001321039
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   B2RAL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307967   ⟸   NM_001321038
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   B2RAL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856586   ⟸   XM_017001097
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   B2RAL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856587   ⟸   XM_017001098
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   B2RAL8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000390629   ⟸   ENST00000441735
RefSeq Acc Id: ENSP00000385510   ⟸   ENST00000406462
RefSeq Acc Id: ENSP00000496104   ⟸   ENST00000642355
RefSeq Acc Id: ENSP00000392138   ⟸   ENST00000446797
RefSeq Acc Id: ENSP00000495317   ⟸   ENST00000643094
RefSeq Acc Id: ENSP00000495168   ⟸   ENST00000643643
RefSeq Acc Id: ENSP00000496756   ⟸   ENST00000645164
RefSeq Acc Id: ENSP00000494056   ⟸   ENST00000645255
RefSeq Acc Id: ENSP00000264126   ⟸   ENST00000264126
RefSeq Acc Id: ENSP00000408664   ⟸   ENST00000435987
RefSeq Acc Id: ENSP00000401948   ⟸   ENST00000435475
RefSeq Acc Id: ENSP00000501579   ⟸   ENST00000674914
RefSeq Acc Id: ENSP00000502401   ⟸   ENST00000674731
RefSeq Acc Id: ENSP00000501743   ⟸   ENST00000674700
RefSeq Acc Id: ENSP00000502020   ⟸   ENST00000675087
RefSeq Acc Id: ENSP00000502476   ⟸   ENST00000675086
RefSeq Acc Id: ENSP00000502178   ⟸   ENST00000676184
RefSeq Acc Id: ENSP00000502346   ⟸   ENST00000676404
RefSeq Acc Id: XP_047274679   ⟸   XM_047418723
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047274680   ⟸   XM_047418724
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192160   ⟸   XM_054336185
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192161   ⟸   XM_054336186
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192163   ⟸   XM_054336188
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192159   ⟸   XM_054336184
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192162   ⟸   XM_054336187
- Peptide Label: isoform X1
- UniProtKB: Q6IBL7 (UniProtKB/Swiss-Prot),   Q5T1N8 (UniProtKB/Swiss-Prot),   P81274 (UniProtKB/Swiss-Prot),   Q8N0Z5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192164   ⟸   XM_054336189
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054192165   ⟸   XM_054336190
- Peptide Label: isoform X3
Protein Domains
GoLoco

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P81274-F1-model_v2 AlphaFold P81274 1-684 view protein structure

Promoters
RGD ID:6856452
Promoter ID:EPDNEW_H1391
Type:initiation region
Name:GPSM2_1
Description:G protein signaling modulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1392  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,876,985 - 108,877,045EPDNEW
RGD ID:6856506
Promoter ID:EPDNEW_H1392
Type:initiation region
Name:GPSM2_2
Description:G protein signaling modulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1391  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,877,162 - 108,877,222EPDNEW
RGD ID:6785681
Promoter ID:HG_KWN:3949
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_013296,   OTTHUMT00000032401,   OTTHUMT00000324129,   OTTHUMT00000324130
Position:
Human AssemblyChrPosition (strand)Source
Build 361109,220,899 - 109,221,399 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29501 AgrOrtholog
COSMIC GPSM2 COSMIC
Ensembl Genes ENSG00000121957 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264126 ENTREZGENE
  ENST00000264126.9 UniProtKB/Swiss-Prot
  ENST00000406462.6 UniProtKB/Swiss-Prot
  ENST00000435475.5 UniProtKB/TrEMBL
  ENST00000435987.5 UniProtKB/TrEMBL
  ENST00000441735.2 UniProtKB/TrEMBL
  ENST00000446797 UniProtKB/TrEMBL
  ENST00000446797.2 UniProtKB/Swiss-Prot
  ENST00000642355 ENTREZGENE
  ENST00000642355.1 UniProtKB/Swiss-Prot
  ENST00000643094.1 UniProtKB/TrEMBL
  ENST00000643643.1 UniProtKB/TrEMBL
  ENST00000645164 UniProtKB/TrEMBL
  ENST00000645164.2 UniProtKB/Swiss-Prot
  ENST00000645255.1 UniProtKB/TrEMBL
  ENST00000674700.1 UniProtKB/TrEMBL
  ENST00000674731 ENTREZGENE
  ENST00000674731.1 UniProtKB/TrEMBL
  ENST00000674914 ENTREZGENE
  ENST00000674914.1 UniProtKB/TrEMBL
  ENST00000675086.1 UniProtKB/TrEMBL
  ENST00000675087.1 UniProtKB/TrEMBL
  ENST00000676184 ENTREZGENE
  ENST00000676184.1 UniProtKB/Swiss-Prot
  ENST00000676404.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121957 GTEx
HGNC ID HGNC:29501 ENTREZGENE
Human Proteome Map GPSM2 Human Proteome Map
InterPro GoLoco_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 29899 ENTREZGENE
OMIM 609245 OMIM
PANTHER G-PROTEIN-SIGNALING MODULATOR 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LD33695P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GoLoco UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134993615 PharmGKB
PROSITE GOLOCO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GoLoco UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y673_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6E3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y896_HUMAN UniProtKB/TrEMBL
  A0A2R8YCX1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF02_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFD2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGS6 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PGU2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGW7_HUMAN UniProtKB/TrEMBL
  B0QZC9_HUMAN UniProtKB/TrEMBL
  B0QZD0_HUMAN UniProtKB/TrEMBL
  B2RAL8 ENTREZGENE, UniProtKB/TrEMBL
  B4DIF1_HUMAN UniProtKB/TrEMBL
  GPSM2_HUMAN UniProtKB/Swiss-Prot
  H0Y4A4_HUMAN UniProtKB/TrEMBL
  P81274 ENTREZGENE
  Q5T1N8 ENTREZGENE
  Q5T1N9_HUMAN UniProtKB/TrEMBL
  Q6IBL7 ENTREZGENE
  Q8N0Z5 ENTREZGENE
UniProt Secondary Q5T1N8 UniProtKB/Swiss-Prot
  Q6IBL7 UniProtKB/Swiss-Prot
  Q8N0Z5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-04-18 GPSM2  G protein signaling modulator 2    G-protein signaling modulator 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 GPSM2  G-protein signaling modulator 2  GPSM2  G-protein signaling modulator 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 GPSM2  G-protein signaling modulator 2  GPSM2  G-protein signaling modulator 2 (AGS3-like, C. elegans)  Symbol and/or name change 5135510 APPROVED