ARHGAP22 (Rho GTPase activating protein 22) - Rat Genome Database

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Gene: ARHGAP22 (Rho GTPase activating protein 22) Homo sapiens
Analyze
Symbol: ARHGAP22
Name: Rho GTPase activating protein 22
RGD ID: 1316310
HGNC Page HGNC:30320
Description: Predicted to enable GTPase activator activity. Involved in regulation of postsynapse organization. Located in focal adhesion. Is active in glutamatergic synapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: rho GTPase-activating protein 22; rho-type GTPase-activating protein 22; RhoGAP2; RhoGap22
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381048,429,831 - 48,656,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1048,446,036 - 48,656,265 (-)EnsemblGRCh38hg38GRCh38
GRCh371049,654,079 - 49,864,310 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361049,324,085 - 49,483,144 (-)NCBINCBI36Build 36hg18NCBI36
Build 341049,324,085 - 49,483,144NCBI
Celera1043,239,986 - 43,398,967 (-)NCBICelera
Cytogenetic Map10q11.22-q11.23NCBI
HuRef1043,918,892 - 44,129,417 (-)NCBIHuRef
CHM1_11049,935,899 - 50,146,144 (-)NCBICHM1_1
T2T-CHM13v2.01049,275,552 - 49,505,563 (-)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
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propanal  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
Soman  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (TAS)
focal adhesion  (HDA,IEA)
glutamatergic synapse  (IDA,IMP)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8619474   PMID:14702039   PMID:15254788   PMID:15489334   PMID:16344560   PMID:16385451   PMID:20379614   PMID:20585324   PMID:21078624   PMID:21310492   PMID:21423176   PMID:21653829  
PMID:21873635   PMID:21926414   PMID:21969604   PMID:22952583   PMID:23593239   PMID:25416956   PMID:28514442   PMID:28544509   PMID:29844126   PMID:31602702   PMID:31976761   PMID:32203420  
PMID:32296183   PMID:32513696   PMID:32707033   PMID:32908313   PMID:33961781   PMID:35007762   PMID:36456117  


Genomics

Comparative Map Data
ARHGAP22
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381048,429,831 - 48,656,265 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1048,446,036 - 48,656,265 (-)EnsemblGRCh38hg38GRCh38
GRCh371049,654,079 - 49,864,310 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361049,324,085 - 49,483,144 (-)NCBINCBI36Build 36hg18NCBI36
Build 341049,324,085 - 49,483,144NCBI
Celera1043,239,986 - 43,398,967 (-)NCBICelera
Cytogenetic Map10q11.22-q11.23NCBI
HuRef1043,918,892 - 44,129,417 (-)NCBIHuRef
CHM1_11049,935,899 - 50,146,144 (-)NCBICHM1_1
T2T-CHM13v2.01049,275,552 - 49,505,563 (-)NCBIT2T-CHM13v2.0
Arhgap22
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391432,935,952 - 33,091,893 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1432,935,983 - 33,091,891 (+)EnsemblGRCm39 Ensembl
GRCm381433,213,994 - 33,369,936 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1433,214,026 - 33,369,934 (+)EnsemblGRCm38mm10GRCm38
MGSCv371434,030,009 - 34,183,122 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361432,045,915 - 32,199,025 (+)NCBIMGSCv36mm8
Celera1429,476,997 - 29,628,675 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1420.15NCBI
Arhgap22
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8168,480,222 - 8,637,823 (+)NCBIGRCr8
mRatBN7.2168,473,806 - 8,631,552 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl168,476,306 - 8,631,548 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx168,600,860 - 8,650,867 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0169,745,577 - 9,795,573 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0168,595,355 - 8,645,379 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0169,454,269 - 9,613,508 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl169,486,832 - 9,613,528 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01611,414,640 - 11,572,157 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4168,863,537 - 8,913,459 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1168,866,751 - 8,913,458 (+)NCBI
Celera166,575,743 - 6,625,300 (-)NCBICelera
Cytogenetic Map16p16NCBI
Arhgap22
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555561,501,773 - 1,588,604 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555561,462,366 - 1,588,589 (+)NCBIChiLan1.0ChiLan1.0
ARHGAP22
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2860,676,020 - 60,925,165 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11060,682,205 - 60,930,486 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01045,589,509 - 45,833,137 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ARHGAP22
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.128419,532 - 555,511 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl28419,838 - 582,548 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha28648,824 - 784,583 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.028595,180 - 731,152 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl28595,483 - 758,607 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.128394,859 - 530,643 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.028436,100 - 571,773 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.028561,465 - 697,162 (-)NCBIUU_Cfam_GSD_1.0
Arhgap22
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721380,366,892 - 80,562,523 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367281,573,288 - 1,765,505 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367281,633,385 - 1,765,345 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGAP22
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1489,113,768 - 89,331,274 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11489,113,774 - 89,331,629 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21496,946,248 - 97,088,885 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGAP22
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1943,140,076 - 43,349,962 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl943,316,598 - 43,349,602 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660482,901,664 - 3,117,756 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arhgap22
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249281,265,592 - 1,433,947 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARHGAP22
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3 copy number gain See cases [RCV000051306] Chr10:48173631..49920071 [GRCh38]
Chr10:49381674..51028871 [GRCh37]
Chr10:49051680..50798123 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic|uncertain significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
NM_001256024.1(ARHGAP22):c.322+34553G>A single nucleotide variant Lung cancer [RCV000109038] Chr10:48520910 [GRCh38]
Chr10:49728954 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001256024.1(ARHGAP22):c.322+25927T>A single nucleotide variant Lung cancer [RCV000109039] Chr10:48529536 [GRCh38]
Chr10:49737581 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001256024.1(ARHGAP22):c.322+9850C>T single nucleotide variant Lung cancer [RCV000109040] Chr10:48545613 [GRCh38]
Chr10:49753658 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001256024.1(ARHGAP22):c.35-8526T>A single nucleotide variant Lung cancer [RCV000109041] Chr10:48591678 [GRCh38]
Chr10:49799723 [GRCh37]
Chr10:10q11.22		 uncertain significance
NC_000010.10:g.49033586_52417694del deletion Megacolon [RCV001290060] Chr10:49033586..52417694 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3 copy number gain See cases [RCV000137480] Chr10:48084228..49929364 [GRCh38]
Chr10:49299274..51187662 [GRCh37]
Chr10:48962277..50857668 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23		 likely benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
NM_021226.4(ARHGAP22):c.14A>C (p.Lys5Thr) single nucleotide variant Long QT syndrome [RCV000190164] Chr10:48604783 [GRCh38]
Chr10:49812828 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3 copy number gain See cases [RCV000449059] Chr10:49392896..52372011 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 copy number loss See cases [RCV000240024] Chr10:46491169..51081560 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001256024.1(ARHGAP22):c.1759G>T (p.Asp587Tyr) single nucleotide variant not specified [RCV000442765] Chr10:48450418 [GRCh38]
Chr10:49658461 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001256024.1(ARHGAP22):c.1186C>T (p.Gln396Ter) single nucleotide variant not specified [RCV000422771] Chr10:48450991 [GRCh38]
Chr10:49659034 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1 copy number loss See cases [RCV000510992] Chr10:49378357..51134640 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_021226.4(ARHGAP22):c.1723G>A (p.Ala575Thr) single nucleotide variant not specified [RCV004309905] Chr10:48450406 [GRCh38]
Chr10:49658449 [GRCh37]
Chr10:10q11.22		 likely benign
NM_021226.4(ARHGAP22):c.815A>G (p.Gln272Arg) single nucleotide variant not specified [RCV004308013] Chr10:48454139 [GRCh38]
Chr10:49662182 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.583C>T (p.Arg195Cys) single nucleotide variant not specified [RCV004327166] Chr10:48459760 [GRCh38]
Chr10:49667803 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.952C>T (p.Arg318Trp) single nucleotide variant not specified [RCV004291523] Chr10:48453340 [GRCh38]
Chr10:49661383 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3 copy number gain See cases [RCV000512610] Chr10:49381707..52467180 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51113033)x3 copy number gain not provided [RCV000683266] Chr10:49378356..51113033 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1 copy number loss not provided [RCV000845659] Chr10:49378356..51250418 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752) copy number loss not provided [RCV000767599] Chr10:48102606..50641752 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_021226.4(ARHGAP22):c.1834C>T (p.Arg612Cys) single nucleotide variant not provided [RCV000879611] Chr10:48450295 [GRCh38]
Chr10:49658338 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_021226.4(ARHGAP22):c.660-2A>G single nucleotide variant not provided [RCV000994387] Chr10:48455136 [GRCh38]
Chr10:49663179 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3 copy number gain not provided [RCV000846722] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_021226.4(ARHGAP22):c.553G>C (p.Glu185Gln) single nucleotide variant not provided [RCV000915594] Chr10:48459790 [GRCh38]
Chr10:49667833 [GRCh37]
Chr10:10q11.22		 likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1 copy number loss not provided [RCV000849733] Chr10:48106368..51250418 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_021226.4(ARHGAP22):c.664A>G (p.Thr222Ala) single nucleotide variant not provided [RCV000994386] Chr10:48455130 [GRCh38]
Chr10:49663173 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_001323329.2(MAPK8):c.1179G>A (p.Ser393=) single nucleotide variant not provided [RCV000959018] Chr10:48434924 [GRCh38]
Chr10:49642967 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23		 not provided
GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1 copy number loss not provided [RCV001006318] Chr10:49389565..51122608 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_021226.4(ARHGAP22):c.1986G>A (p.Ala662=) single nucleotide variant not provided [RCV000956822] Chr10:48446502 [GRCh38]
Chr10:49654545 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
NM_001323329.2(MAPK8):c.*154A>G single nucleotide variant not provided [RCV001687705] Chr10:48435183 [GRCh38]
Chr10:49643226 [GRCh37]
Chr10:10q11.22		 benign
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3 copy number gain not provided [RCV001537904] Chr10:48301535..51807296 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3 copy number gain not provided [RCV001260091] Chr10:49378356..51134640 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1 copy number loss not provided [RCV001260092] Chr10:48750425..51386904 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49665178-50142153)x4 copy number gain not provided [RCV001260093] Chr10:49665178..50142153 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3 copy number gain not provided [RCV001270635] Chr10:49391938..51053159 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1 copy number loss not provided [RCV001833005] Chr10:49378357..51134640 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1 copy number loss See cases [RCV002286348] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22(chr10:49584971-49669984)x1 copy number loss not provided [RCV002473860] Chr10:49584971..49669984 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1334G>A (p.Gly445Asp) single nucleotide variant not specified [RCV004246958] Chr10:48450795 [GRCh38]
Chr10:49658838 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_021226.4(ARHGAP22):c.598G>T (p.Ala200Ser) single nucleotide variant not specified [RCV004139176] Chr10:48459745 [GRCh38]
Chr10:49667788 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1910G>A (p.Arg637Gln) single nucleotide variant not specified [RCV004145657] Chr10:48446578 [GRCh38]
Chr10:49654621 [GRCh37]
Chr10:10q11.22		 likely benign
NM_021226.4(ARHGAP22):c.1210C>G (p.Leu404Val) single nucleotide variant not specified [RCV004123826] Chr10:48450919 [GRCh38]
Chr10:49658962 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004191815] Chr10:48583098 [GRCh38]
Chr10:49791143 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.208A>G (p.Lys70Glu) single nucleotide variant not specified [RCV004221939] Chr10:48582979 [GRCh38]
Chr10:49791024 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1051G>A (p.Ala351Thr) single nucleotide variant not specified [RCV004206253] Chr10:48451078 [GRCh38]
Chr10:49659121 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.859A>G (p.Ile287Val) single nucleotide variant not specified [RCV004243801] Chr10:48454095 [GRCh38]
Chr10:49662138 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.584G>A (p.Arg195His) single nucleotide variant not specified [RCV004091463] Chr10:48459759 [GRCh38]
Chr10:49667802 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1414C>T (p.Arg472Cys) single nucleotide variant not specified [RCV004102639] Chr10:48450715 [GRCh38]
Chr10:49658758 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1691T>C (p.Leu564Pro) single nucleotide variant not specified [RCV004191042] Chr10:48450438 [GRCh38]
Chr10:49658481 [GRCh37]
Chr10:10q11.22		 likely benign
NM_021226.4(ARHGAP22):c.1150G>C (p.Gly384Arg) single nucleotide variant not specified [RCV004225257] Chr10:48450979 [GRCh38]
Chr10:49659022 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.931G>A (p.Val311Ile) single nucleotide variant not specified [RCV004138305] Chr10:48453361 [GRCh38]
Chr10:49661404 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1328A>T (p.Lys443Met) single nucleotide variant not specified [RCV004171020] Chr10:48450801 [GRCh38]
Chr10:49658844 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1580G>A (p.Ser527Asn) single nucleotide variant not specified [RCV004090636] Chr10:48450549 [GRCh38]
Chr10:49658592 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1081C>T (p.Arg361Cys) single nucleotide variant not specified [RCV004084377] Chr10:48451048 [GRCh38]
Chr10:49659091 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1289C>G (p.Ser430Cys) single nucleotide variant not specified [RCV004097720] Chr10:48450840 [GRCh38]
Chr10:49658883 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1749C>A (p.Ser583Arg) single nucleotide variant not specified [RCV004173772] Chr10:48450380 [GRCh38]
Chr10:49658423 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1909C>T (p.Arg637Trp) single nucleotide variant not specified [RCV004174092] Chr10:48446579 [GRCh38]
Chr10:49654622 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.2069G>A (p.Gly690Glu) single nucleotide variant not specified [RCV004187715] Chr10:48446419 [GRCh38]
Chr10:49654462 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.757A>G (p.Ser253Gly) single nucleotide variant not specified [RCV004312040] Chr10:48455037 [GRCh38]
Chr10:49663080 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.844A>C (p.Asn282His) single nucleotide variant not specified [RCV004261986] Chr10:48454110 [GRCh38]
Chr10:49662153 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.83G>A (p.Arg28Gln) single nucleotide variant not specified [RCV004252388] Chr10:48583104 [GRCh38]
Chr10:49791149 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.440C>T (p.Pro147Leu) single nucleotide variant not specified [RCV004257629] Chr10:48479647 [GRCh38]
Chr10:49687690 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1417C>T (p.Arg473Trp) single nucleotide variant not specified [RCV004251813] Chr10:48450712 [GRCh38]
Chr10:49658755 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.565A>G (p.Thr189Ala) single nucleotide variant not specified [RCV004259833] Chr10:48459778 [GRCh38]
Chr10:49667821 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1852G>A (p.Glu618Lys) single nucleotide variant not specified [RCV004324093] Chr10:48450277 [GRCh38]
Chr10:49658320 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.82C>T (p.Arg28Trp) single nucleotide variant not specified [RCV004252221] Chr10:48583105 [GRCh38]
Chr10:49791150 [GRCh37]
Chr10:10q11.22		 uncertain significance
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
NM_021226.4(ARHGAP22):c.1076C>T (p.Ser359Phe) single nucleotide variant not specified [RCV004285018] Chr10:48451053 [GRCh38]
Chr10:49659096 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_021226.4(ARHGAP22):c.677C>T (p.Thr226Met) single nucleotide variant not specified [RCV004361656] Chr10:48455117 [GRCh38]
Chr10:49663160 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.338G>A (p.Arg113Gln) single nucleotide variant not specified [RCV004363285] Chr10:48479749 [GRCh38]
Chr10:49687792 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.71G>A (p.Arg24Gln) single nucleotide variant not specified [RCV004342772] Chr10:48583116 [GRCh38]
Chr10:49791161 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1508G>T (p.Gly503Val) single nucleotide variant not specified [RCV004361338] Chr10:48450621 [GRCh38]
Chr10:49658664 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1951A>G (p.Met651Val) single nucleotide variant not specified [RCV004356478] Chr10:48446537 [GRCh38]
Chr10:49654580 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3 copy number gain not provided [RCV003484799] Chr10:48349961..51817663 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_021226.4(ARHGAP22):c.1494G>A (p.Pro498=) single nucleotide variant not provided [RCV003417360] Chr10:48450635 [GRCh38]
Chr10:49658678 [GRCh37]
Chr10:10q11.22		 likely benign
NM_021226.4(ARHGAP22):c.989-110T>C single nucleotide variant not provided [RCV003417361] Chr10:48451250 [GRCh38]
Chr10:49659293 [GRCh37]
Chr10:10q11.22		 likely benign
NM_021226.4(ARHGAP22):c.989-189C>T single nucleotide variant not provided [RCV003417362] Chr10:48451329 [GRCh38]
Chr10:49659372 [GRCh37]
Chr10:10q11.22		 likely benign
NM_021226.4(ARHGAP22):c.989-385A>G single nucleotide variant not provided [RCV003417363] Chr10:48451525 [GRCh38]
Chr10:49659568 [GRCh37]
Chr10:10q11.22		 likely benign
NM_021226.4(ARHGAP22):c.286G>A (p.Glu96Lys) single nucleotide variant not specified [RCV004422508] Chr10:48555499 [GRCh38]
Chr10:49763544 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.63G>T (p.Glu21Asp) single nucleotide variant not specified [RCV004422512] Chr10:48583124 [GRCh38]
Chr10:49791169 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.112G>A (p.Val38Met) single nucleotide variant not specified [RCV004422493] Chr10:48583075 [GRCh38]
Chr10:49791120 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1192G>T (p.Gly398Trp) single nucleotide variant not specified [RCV004422494] Chr10:48450937 [GRCh38]
Chr10:49658980 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1435C>T (p.Arg479Trp) single nucleotide variant not specified [RCV004422497] Chr10:48450694 [GRCh38]
Chr10:49658737 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1591G>T (p.Ala531Ser) single nucleotide variant not specified [RCV004422498] Chr10:48450538 [GRCh38]
Chr10:49658581 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1718C>A (p.Ala573Glu) single nucleotide variant not specified [RCV004422500] Chr10:48450411 [GRCh38]
Chr10:49658454 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1889A>G (p.Asp630Gly) single nucleotide variant not specified [RCV004422502] Chr10:48446599 [GRCh38]
Chr10:49654642 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1951A>C (p.Met651Leu) single nucleotide variant not specified [RCV004422503] Chr10:48446537 [GRCh38]
Chr10:49654580 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1982G>A (p.Arg661Gln) single nucleotide variant not specified [RCV004422504] Chr10:48446506 [GRCh38]
Chr10:49654549 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.2087C>T (p.Ala696Val) single nucleotide variant not specified [RCV004422505] Chr10:48446401 [GRCh38]
Chr10:49654444 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.515C>T (p.Ala172Val) single nucleotide variant not specified [RCV004422511] Chr10:48459828 [GRCh38]
Chr10:49667871 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1268A>G (p.Gln423Arg) single nucleotide variant not specified [RCV004422496] Chr10:48450861 [GRCh38]
Chr10:49658904 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1636G>C (p.Asp546His) single nucleotide variant not specified [RCV004422499] Chr10:48450493 [GRCh38]
Chr10:49658536 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.1250G>A (p.Ser417Asn) single nucleotide variant not specified [RCV004422495] Chr10:48450879 [GRCh38]
Chr10:49658922 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.247C>A (p.Leu83Ile) single nucleotide variant not specified [RCV004422507] Chr10:48555538 [GRCh38]
Chr10:49763583 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.448G>A (p.Gly150Arg) single nucleotide variant not specified [RCV004422509] Chr10:48479639 [GRCh38]
Chr10:49687682 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.745G>A (p.Glu249Lys) single nucleotide variant not specified [RCV004422513] Chr10:48455049 [GRCh38]
Chr10:49663092 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.458T>C (p.Phe153Ser) single nucleotide variant not specified [RCV004422510] Chr10:48459885 [GRCh38]
Chr10:49667928 [GRCh37]
Chr10:10q11.22		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3 copy number gain See cases [RCV004442779] Chr10:46975077..51089085 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NC_000010.10:g.(?_49383876)_(52383915_?)del deletion Cockayne syndrome type 2 [RCV003885341] Chr10:49383876..52383915 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_021226.4(ARHGAP22):c.184C>T (p.Arg62Cys) single nucleotide variant not specified [RCV004422501] Chr10:48583003 [GRCh38]
Chr10:49791048 [GRCh37]
Chr10:10q11.22		 uncertain significance
NM_021226.4(ARHGAP22):c.233A>T (p.Gln78Leu) single nucleotide variant not specified [RCV004422506] Chr10:48582954 [GRCh38]
Chr10:49790999 [GRCh37]
Chr10:10q11.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3707
Count of miRNA genes:1010
Interacting mature miRNAs:1227
Transcripts:ENST00000249601, ENST00000374170, ENST00000374172, ENST00000417247, ENST00000417912, ENST00000435790, ENST00000460425, ENST00000464445, ENST00000471013, ENST00000477708, ENST00000489984, ENST00000491108, ENST00000493012, ENST00000511570, ENST00000515523
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
SHGC-173293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371049,661,083 - 49,661,405UniSTSGRCh37
Build 361049,331,089 - 49,331,411RGDNCBI36
Celera1043,246,990 - 43,247,312RGD
Cytogenetic Map10q11.22UniSTS
HuRef1043,925,906 - 43,926,228UniSTS
WI-15769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371049,781,139 - 49,781,264UniSTSGRCh37
Build 361049,451,145 - 49,451,270RGDNCBI36
Celera1043,366,976 - 43,367,101RGD
Cytogenetic Map10q11.22UniSTS
HuRef1044,046,088 - 44,046,213UniSTS
GeneMap99-GB4 RH Map10296.16UniSTS
Whitehead-RH Map10376.5UniSTS
NCBI RH Map10613.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 9 111 57 4 20 4 31 13 381 18 59 82 1 8
Low 2056 2215 1354 323 1031 169 3911 1744 3310 275 1360 1481 164 1153 2431 4 1
Below cutoff 367 658 308 292 865 287 412 436 24 124 32 44 7 50 349

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY324801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB338179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC391765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000249601   ⟹   ENSP00000249601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,036 - 48,605,073 (-)Ensembl
RefSeq Acc Id: ENST00000374170   ⟹   ENSP00000363285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,036 - 48,524,236 (-)Ensembl
RefSeq Acc Id: ENST00000374172   ⟹   ENSP00000363287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,036 - 48,556,678 (-)Ensembl
RefSeq Acc Id: ENST00000417247   ⟹   ENSP00000410054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,037 - 48,493,649 (-)Ensembl
RefSeq Acc Id: ENST00000417912   ⟹   ENSP00000412461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,340 - 48,604,952 (-)Ensembl
RefSeq Acc Id: ENST00000435790   ⟹   ENSP00000416701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,242 - 48,652,616 (-)Ensembl
RefSeq Acc Id: ENST00000460425   ⟹   ENSP00000422663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,558 - 48,656,265 (-)Ensembl
RefSeq Acc Id: ENST00000464445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,582,721 - 48,652,321 (-)Ensembl
RefSeq Acc Id: ENST00000471013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,453,357 - 48,605,088 (-)Ensembl
RefSeq Acc Id: ENST00000477708   ⟹   ENSP00000422868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,446,036 - 48,451,627 (-)Ensembl
RefSeq Acc Id: ENST00000489984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,454,157 - 48,466,696 (-)Ensembl
RefSeq Acc Id: ENST00000491108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,574,702 - 48,604,955 (-)Ensembl
RefSeq Acc Id: ENST00000493012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,532,484 - 48,583,125 (-)Ensembl
RefSeq Acc Id: ENST00000511570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,575,322 - 48,583,047 (-)Ensembl
RefSeq Acc Id: ENST00000515523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,453,301 - 48,479,206 (-)Ensembl
RefSeq Acc Id: NM_001256024   ⟹   NP_001242953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
GRCh371049,654,068 - 49,864,310 (-)NCBI
HuRef1043,918,892 - 44,129,417 (-)NCBI
CHM1_11049,935,899 - 50,094,992 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256025   ⟹   NP_001242954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,652,502 (-)NCBI
GRCh371049,654,068 - 49,864,310 (-)NCBI
HuRef1043,918,892 - 44,129,417 (-)NCBI
CHM1_11049,935,899 - 50,142,379 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,501,557 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256026   ⟹   NP_001242955
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,493,650 (-)NCBI
GRCh371049,654,068 - 49,864,310 (-)NCBI
HuRef1043,918,892 - 44,129,417 (-)NCBI
CHM1_11049,935,899 - 49,983,517 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,342,722 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347735   ⟹   NP_001334664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347736   ⟹   NP_001334665
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,574,235 - 48,656,265 (-)NCBI
T2T-CHM13v2.01049,423,279 - 49,505,563 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347737   ⟹   NP_001334666
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,574,235 - 48,605,073 (-)NCBI
T2T-CHM13v2.01049,423,279 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347738   ⟹   NP_001334667
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,656,265 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,505,563 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021226   ⟹   NP_067049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
GRCh371049,654,068 - 49,864,310 (-)NCBI
Build 361049,324,085 - 49,483,144 (-)NCBI Archive
Celera1043,239,986 - 43,398,967 (-)RGD
HuRef1043,918,892 - 44,129,417 (-)NCBI
CHM1_11049,935,899 - 50,094,992 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045675
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,656,265 (-)NCBI
GRCh371049,654,068 - 49,864,310 (-)NCBI
HuRef1043,918,892 - 44,129,417 (-)NCBI
CHM1_11049,935,899 - 50,146,144 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,505,563 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144642
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144643
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144644
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144645
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: NR_144646
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,605,073 (-)NCBI
T2T-CHM13v2.01049,295,113 - 49,454,114 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270014   ⟹   XP_005270071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,524,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540002   ⟹   XP_011538304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540003   ⟹   XP_011538305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540005   ⟹   XP_011538307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,493,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540006   ⟹   XP_011538308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540011   ⟹   XP_011538313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,524,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540013   ⟹   XP_011538315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,429,831 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540015   ⟹   XP_011538317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016471   ⟹   XP_016871960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,470,415 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016476   ⟹   XP_016871965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,429,831 - 48,605,073 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448099   ⟹   XP_024303867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,652,502 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448100   ⟹   XP_024303868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,429,831 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448102   ⟹   XP_024303870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,532,488 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448106   ⟹   XP_024303874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,574,235 - 48,656,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425586   ⟹   XP_047281542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,656,265 (-)NCBI
RefSeq Acc Id: XM_047425587   ⟹   XP_047281543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,471,989 (-)NCBI
RefSeq Acc Id: XM_047425588   ⟹   XP_047281544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,479,569 (-)NCBI
RefSeq Acc Id: XM_047425589   ⟹   XP_047281545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,524,329 (-)NCBI
RefSeq Acc Id: XM_047425590   ⟹   XP_047281546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,479,568 (-)NCBI
RefSeq Acc Id: XM_047425591   ⟹   XP_047281547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,446,036 - 48,473,286 (-)NCBI
RefSeq Acc Id: XM_047425592   ⟹   XP_047281548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,451,257 - 48,656,265 (-)NCBI
RefSeq Acc Id: XM_047425593   ⟹   XP_047281549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,451,019 - 48,656,265 (-)NCBI
RefSeq Acc Id: XM_047425594   ⟹   XP_047281550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,453,339 - 48,656,265 (-)NCBI
RefSeq Acc Id: XM_047425595   ⟹   XP_047281551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,455,008 - 48,656,265 (-)NCBI
RefSeq Acc Id: XM_054366455   ⟹   XP_054222430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,505,563 (-)NCBI
RefSeq Acc Id: XM_054366456   ⟹   XP_054222431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366457   ⟹   XP_054222432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,505,563 (-)NCBI
RefSeq Acc Id: XM_054366458   ⟹   XP_054222433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,505,563 (-)NCBI
RefSeq Acc Id: XM_054366459   ⟹   XP_054222434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,321,063 (-)NCBI
RefSeq Acc Id: XM_054366460   ⟹   XP_054222435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,342,722 (-)NCBI
RefSeq Acc Id: XM_054366461   ⟹   XP_054222436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366462   ⟹   XP_054222437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,373,225 (-)NCBI
RefSeq Acc Id: XM_054366463   ⟹   XP_054222438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,328,642 (-)NCBI
RefSeq Acc Id: XM_054366464   ⟹   XP_054222439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,373,253 (-)NCBI
RefSeq Acc Id: XM_054366465   ⟹   XP_054222440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,328,641 (-)NCBI
RefSeq Acc Id: XM_054366466   ⟹   XP_054222441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,322,360 (-)NCBI
RefSeq Acc Id: XM_054366467   ⟹   XP_054222442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,319,490 (-)NCBI
RefSeq Acc Id: XM_054366468   ⟹   XP_054222443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,328,640 (-)NCBI
RefSeq Acc Id: XM_054366469   ⟹   XP_054222444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,275,552 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366470   ⟹   XP_054222445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,300,334 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366471   ⟹   XP_054222446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,275,552 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366472   ⟹   XP_054222447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,300,096 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366473   ⟹   XP_054222448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,275,552 - 49,454,114 (-)NCBI
RefSeq Acc Id: XM_054366474   ⟹   XP_054222449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,295,113 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366475   ⟹   XP_054222450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,302,416 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366476   ⟹   XP_054222451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,304,085 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366477   ⟹   XP_054222452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,303,166 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366478   ⟹   XP_054222453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,381,538 - 49,501,557 (-)NCBI
RefSeq Acc Id: XM_054366479   ⟹   XP_054222454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,304,085 - 49,501,557 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001242953 (Get FASTA)   NCBI Sequence Viewer  
  NP_001242954 (Get FASTA)   NCBI Sequence Viewer  
  NP_001242955 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334664 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334665 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334666 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334667 (Get FASTA)   NCBI Sequence Viewer  
  NP_067049 (Get FASTA)   NCBI Sequence Viewer  
  XP_005270071 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538304 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538305 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538307 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538308 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538313 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538315 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538317 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871960 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871965 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303867 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303868 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303870 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303874 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281542 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281543 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281544 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281545 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281546 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281547 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281548 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281549 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281550 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222430 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222431 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222432 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222433 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222434 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222443 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222444 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222445 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222446 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222447 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222448 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222449 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222450 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222451 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222452 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222454 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB51057 (Get FASTA)   NCBI Sequence Viewer  
  AAI26445 (Get FASTA)   NCBI Sequence Viewer  
  AAI36320 (Get FASTA)   NCBI Sequence Viewer  
  AAP85632 (Get FASTA)   NCBI Sequence Viewer  
  ABQ59059 (Get FASTA)   NCBI Sequence Viewer  
  BAC87044 (Get FASTA)   NCBI Sequence Viewer  
  BAG51453 (Get FASTA)   NCBI Sequence Viewer  
  BAG57049 (Get FASTA)   NCBI Sequence Viewer  
  EAW93125 (Get FASTA)   NCBI Sequence Viewer  
  EAW93126 (Get FASTA)   NCBI Sequence Viewer  
  EAW93127 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000249601
  ENSP00000249601.4
  ENSP00000363285
  ENSP00000363285.1
  ENSP00000363287
  ENSP00000363287.1
  ENSP00000410054
  ENSP00000410054.2
  ENSP00000412461
  ENSP00000412461.2
  ENSP00000416701
  ENSP00000416701.2
  ENSP00000422663.1
  ENSP00000422868.1
GenBank Protein Q7Z5H3 (Get FASTA)   NCBI Sequence Viewer  
  SPT35693 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_067049   ⟸   NM_021226
- Peptide Label: isoform 3
- UniProtKB: O00152 (UniProtKB/Swiss-Prot),   C9JDM2 (UniProtKB/Swiss-Prot),   B9EGA0 (UniProtKB/Swiss-Prot),   B4DED8 (UniProtKB/Swiss-Prot),   A5YM75 (UniProtKB/Swiss-Prot),   A0AVP7 (UniProtKB/Swiss-Prot),   Q6ZSB0 (UniProtKB/Swiss-Prot),   Q7Z5H3 (UniProtKB/Swiss-Prot),   B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242954   ⟸   NM_001256025
- Peptide Label: isoform 2
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242953   ⟸   NM_001256024
- Peptide Label: isoform 1
- UniProtKB: A0A2X0SFC0 (UniProtKB/TrEMBL),   B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242955   ⟸   NM_001256026
- Peptide Label: isoform 4
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005270071   ⟸   XM_005270014
- Peptide Label: isoform X6
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538315   ⟸   XM_011540013
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011538308   ⟸   XM_011540006
- Peptide Label: isoform X5
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538317   ⟸   XM_011540015
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_011538304   ⟸   XM_011540002
- Peptide Label: isoform X1
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538305   ⟸   XM_011540003
- Peptide Label: isoform X1
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538313   ⟸   XM_011540011
- Peptide Label: isoform X10
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538307   ⟸   XM_011540005
- Peptide Label: isoform X4
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871965   ⟸   XM_017016476
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_016871960   ⟸   XM_017016471
- Peptide Label: isoform X11
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303868   ⟸   XM_024448100
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: NP_001334667   ⟸   NM_001347738
- Peptide Label: isoform 2
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334664   ⟸   NM_001347735
- Peptide Label: isoform 7
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303867   ⟸   XM_024448099
- Peptide Label: isoform X1
- UniProtKB: B3KNU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303870   ⟸   XM_024448102
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_024303874   ⟸   XM_024448106
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: NP_001334665   ⟸   NM_001347736
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001334666   ⟸   NM_001347737
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: ENSP00000422868   ⟸   ENST00000477708
RefSeq Acc Id: ENSP00000363287   ⟸   ENST00000374172
RefSeq Acc Id: ENSP00000363285   ⟸   ENST00000374170
RefSeq Acc Id: ENSP00000410054   ⟸   ENST00000417247
RefSeq Acc Id: ENSP00000412461   ⟸   ENST00000417912
RefSeq Acc Id: ENSP00000249601   ⟸   ENST00000249601
RefSeq Acc Id: ENSP00000416701   ⟸   ENST00000435790
RefSeq Acc Id: ENSP00000422663   ⟸   ENST00000460425
RefSeq Acc Id: XP_047281542   ⟸   XM_047425586
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047281545   ⟸   XM_047425589
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047281544   ⟸   XM_047425588
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047281546   ⟸   XM_047425590
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047281547   ⟸   XM_047425591
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047281543   ⟸   XM_047425587
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047281549   ⟸   XM_047425593
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047281548   ⟸   XM_047425592
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047281550   ⟸   XM_047425594
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047281551   ⟸   XM_047425595
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054222446   ⟸   XM_054366471
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054222444   ⟸   XM_054366469
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054222448   ⟸   XM_054366473
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054222432   ⟸   XM_054366457
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222433   ⟸   XM_054366458
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054222430   ⟸   XM_054366455
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222436   ⟸   XM_054366461
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054222449   ⟸   XM_054366474
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054222431   ⟸   XM_054366456
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222439   ⟸   XM_054366464
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054222437   ⟸   XM_054366462
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054222435   ⟸   XM_054366460
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054222438   ⟸   XM_054366463
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054222440   ⟸   XM_054366465
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054222443   ⟸   XM_054366468
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054222441   ⟸   XM_054366466
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054222434   ⟸   XM_054366459
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054222442   ⟸   XM_054366467
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054222447   ⟸   XM_054366472
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054222445   ⟸   XM_054366470
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054222450   ⟸   XM_054366475
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054222452   ⟸   XM_054366477
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054222454   ⟸   XM_054366479
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054222451   ⟸   XM_054366476
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054222453   ⟸   XM_054366478
- Peptide Label: isoform X19
Protein Domains
PH   Rho-GAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z5H3-F1-model_v2 AlphaFold Q7Z5H3 1-698 view protein structure

Promoters
RGD ID:7217493
Promoter ID:EPDNEW_H14492
Type:initiation region
Name:ARHGAP22_2
Description:Rho GTPase activating protein 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14493  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,451,647 - 48,451,707EPDNEW
RGD ID:7217497
Promoter ID:EPDNEW_H14493
Type:initiation region
Name:ARHGAP22_1
Description:Rho GTPase activating protein 22
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14492  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,605,073 - 48,605,133EPDNEW
RGD ID:6787351
Promoter ID:HG_KWN:9474
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC001JGS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361049,371,676 - 49,372,176 (-)MPROMDB
RGD ID:6787578
Promoter ID:HG_KWN:9476
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000374170
Position:
Human AssemblyChrPosition (strand)Source
Build 361049,401,796 - 49,402,397 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30320 AgrOrtholog
COSMIC ARHGAP22 COSMIC
Ensembl Genes ENSG00000128805 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000249601 ENTREZGENE
  ENST00000249601.9 UniProtKB/Swiss-Prot
  ENST00000374170 ENTREZGENE
  ENST00000374170.5 UniProtKB/TrEMBL
  ENST00000374172 ENTREZGENE
  ENST00000374172.5 UniProtKB/TrEMBL
  ENST00000417247 ENTREZGENE
  ENST00000417247.6 UniProtKB/Swiss-Prot
  ENST00000417912 ENTREZGENE
  ENST00000417912.6 UniProtKB/Swiss-Prot
  ENST00000435790 ENTREZGENE
  ENST00000435790.6 UniProtKB/Swiss-Prot
  ENST00000460425 ENTREZGENE
  ENST00000460425.1 UniProtKB/TrEMBL
  ENST00000477708.6 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000128805 GTEx
HGNC ID HGNC:30320 ENTREZGENE
Human Proteome Map ARHGAP22 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:58504 UniProtKB/Swiss-Prot
NCBI Gene 58504 ENTREZGENE
OMIM 610585 OMIM
PANTHER RHO GTPASE-ACTIVATING PROTEIN 22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPERMATHECAL PHYSIOLOGY VARIANT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134979724 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0SFC0 ENTREZGENE, UniProtKB/TrEMBL
  A0AVP7 ENTREZGENE
  A5YM75 ENTREZGENE
  A6NHM7_HUMAN UniProtKB/TrEMBL
  A6NJ38_HUMAN UniProtKB/TrEMBL
  B3KNU1 ENTREZGENE, UniProtKB/TrEMBL
  B4DED8 ENTREZGENE
  B9EGA0 ENTREZGENE
  C9JDM2 ENTREZGENE
  D6R9V6_HUMAN UniProtKB/TrEMBL
  D6RBJ8_HUMAN UniProtKB/TrEMBL
  O00152 ENTREZGENE
  Q6ZSB0 ENTREZGENE
  Q7Z5H3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0AVP7 UniProtKB/Swiss-Prot
  A5YM75 UniProtKB/Swiss-Prot
  B4DED8 UniProtKB/Swiss-Prot
  B9EGA0 UniProtKB/Swiss-Prot
  C9JDM2 UniProtKB/Swiss-Prot
  O00152 UniProtKB/Swiss-Prot
  Q6ZSB0 UniProtKB/Swiss-Prot