AP1S2 (adaptor related protein complex 1 subunit sigma 2) - Rat Genome Database

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Gene: AP1S2 (adaptor related protein complex 1 subunit sigma 2) Homo sapiens
Analyze
Symbol: AP1S2
Name: adaptor related protein complex 1 subunit sigma 2
RGD ID: 1348501
HGNC Page HGNC
Description: Predicted to be involved in several processes, including adipose tissue development; synaptic vesicle budding from endosome; and visual learning. Localizes to Golgi apparatus. Implicated in syndromic X-linked intellectual disability 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adapter-related protein complex 1 sigma-1B subunit; adapter-related protein complex 1 subunit sigma-1B; adaptor protein complex AP-1 sigma-1B subunit; adaptor protein complex AP-1 subunit sigma-1B; adaptor related protein complex 1 sigma 2 subunit; adaptor-related protein complex 1 sigma 2 subunit; adaptor-related protein complex 1 subunit sigma-1B; adaptor-related protein complex 1, sigma 2 subunit; AP-1 complex subunit sigma-2; clathrin adaptor complex AP1 sigma 1B subunit; clathrin assembly protein complex 1 sigma-1B small chain; clathrin-associated/assembly/adaptor protein small 1-like; DC22; golgi adaptor HA1/AP1 adaptin sigma 1B subunit; golgi adaptor HA1/AP1 adaptin sigma-1B subunit; mental retardation, X-linked 59; mental retardation, X-linked, syndromic 5; MGC:1902; MRX59; MRXS21; MRXS5; MRXSF; Pettigrew X-linked mental retardation syndrome; PGS; sigma 1B subunit of AP-1 clathrin; sigma-adaptin 1B; SIGMA1B; sigma1B-adaptin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC025048.6   AP1S2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX15,825,806 - 15,854,931 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,825,806 - 15,854,966 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,843,929 - 15,872,936 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,753,850 - 15,783,021 (-)NCBINCBI36hg18NCBI36
Build 34X15,603,585 - 15,632,757NCBI
CeleraX19,961,411 - 19,990,500 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,597,581 - 13,626,785 (-)NCBIHuRef
CHM1_1X15,874,896 - 15,904,078 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
carmustine  (EXP)
choline  (ISO)
cisplatin  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
indometacin  (EXP)
isobutanol  (EXP)
L-methionine  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
N-nitrosodimethylamine  (ISO)
paracetamol  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium fluoride  (ISO)
tamibarotene  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
zoledronic acid  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormality of the basal ganglia  (IAGP)
Abnormality of the optic nerve  (IAGP)
Aggressive behavior  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Autistic behavior  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Choreoathetosis  (IAGP)
Coarse facial features  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Deeply set eye  (IAGP)
EEG abnormality  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High-frequency hearing impairment  (IAGP)
Hydrocephalus  (IAGP)
Hyperreflexia  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Long face  (IAGP)
Long nose  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Myopathy  (IAGP)
Open mouth  (IAGP)
Poor speech  (IAGP)
Prominent forehead  (IAGP)
Prominent nose  (IAGP)
Protruding ear  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short chin  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spastic diplegia  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Thick vermilion border  (IAGP)
Thickened calvaria  (IAGP)
Triangular face  (IAGP)
Ventriculomegaly  (IAGP)
Wide mouth  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1605216   PMID:2040623   PMID:9733768   PMID:9736718   PMID:9811606   PMID:9811611   PMID:9882340   PMID:10398241   PMID:10966473   PMID:11031247   PMID:11222723   PMID:11252894  
PMID:11463741   PMID:11694590   PMID:12215646   PMID:12477932   PMID:12486136   PMID:12836198   PMID:14702039   PMID:15489334   PMID:15569716   PMID:15681409   PMID:16253302   PMID:17186471  
PMID:17617514   PMID:18336259   PMID:18428203   PMID:19149577   PMID:19322201   PMID:20594957   PMID:21762802   PMID:21873635   PMID:22103831   PMID:22939629   PMID:23077317   PMID:23678182  
PMID:23705972   PMID:23756445   PMID:24797263   PMID:24928897   PMID:25416956   PMID:25649377   PMID:25814554   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26673895   PMID:28514442  
PMID:29128334   PMID:29499938   PMID:29845934   PMID:29892012   PMID:29955894   PMID:30383884   PMID:30714330   PMID:31536960   PMID:31712557   PMID:32296183  


Genomics

Comparative Map Data
AP1S2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX15,825,806 - 15,854,931 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,825,806 - 15,854,966 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,843,929 - 15,872,936 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,753,850 - 15,783,021 (-)NCBINCBI36hg18NCBI36
Build 34X15,603,585 - 15,632,757NCBI
CeleraX19,961,411 - 19,990,500 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,597,581 - 13,626,785 (-)NCBIHuRef
CHM1_1X15,874,896 - 15,904,078 (-)NCBICHM1_1
Ap1s2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X162,691,427 - 162,716,662 (+)NCBIGRCm39mm39
GRCm39 EnsemblX162,692,013 - 162,716,662 (+)Ensembl
GRCm38X163,908,454 - 163,933,666 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX163,909,017 - 163,933,666 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X160,347,092 - 160,367,478 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X159,253,265 - 159,273,651 (+)NCBImm8
CeleraX147,128,574 - 147,148,961 (+)NCBICelera
Cytogenetic MapXF5NCBI
Ap1s2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X30,572,746 - 30,598,961 (-)NCBI
Rnor_6.0 EnsemblX32,329,598 - 32,355,307 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X32,329,883 - 32,376,301 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X32,691,539 - 32,717,224 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X51,329,574 - 51,356,406 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX30,915,890 - 30,941,975 (-)NCBICelera
Cytogenetic MapXq14NCBI
Ap1s2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555192,351,754 - 2,370,650 (+)NCBIChiLan1.0ChiLan1.0
AP1S2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X15,807,475 - 15,835,938 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX15,807,476 - 15,836,172 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X8,449,885 - 8,478,932 (-)NCBIMhudiblu_PPA_v0panPan3
AP1S2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X12,075,797 - 12,105,911 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX12,076,724 - 12,103,654 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX11,926,084 - 11,956,371 (-)NCBI
ROS_Cfam_1.0X12,037,006 - 12,067,314 (-)NCBI
UMICH_Zoey_3.1X12,106,135 - 12,136,551 (-)NCBI
UNSW_CanFamBas_1.0X12,093,621 - 12,123,810 (-)NCBI
UU_Cfam_GSD_1.0X12,118,821 - 12,149,359 (-)NCBI
Ap1s2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X5,251,240 - 5,289,320 (-)NCBI
SpeTri2.0NW_0049364705,260,984 - 5,301,552 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AP1S2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX12,367,156 - 12,398,496 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X12,367,785 - 12,397,672 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X13,312,013 - 13,341,898 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AP1S2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X14,283,175 - 14,310,453 (-)NCBI
Ap1s2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624829608,065 - 637,096 (-)NCBI

Position Markers
RH26746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,868,796 - 15,868,932UniSTSGRCh37
Build 36X15,778,717 - 15,778,853RGDNCBI36
CeleraX19,986,196 - 19,986,332RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,622,444 - 13,622,580UniSTS
RH91863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,848,301 - 15,848,479UniSTSGRCh37
Build 36X15,758,222 - 15,758,400RGDNCBI36
CeleraX19,965,784 - 19,965,962RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,601,953 - 13,602,131UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
G43551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37797,068,880 - 97,069,008UniSTSGRCh37
GRCh37X15,844,203 - 15,844,331UniSTSGRCh37
Build 36X15,754,124 - 15,754,252RGDNCBI36
CeleraX19,961,685 - 19,961,813RGD
Celera791,763,578 - 91,763,706UniSTS
Cytogenetic MapXp22.2UniSTS
HuRef791,670,496 - 91,670,624UniSTS
HuRefX13,597,855 - 13,597,983UniSTS
CRA_TCAGchr7v2796,391,385 - 96,391,513UniSTS
RH104372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,853,858 - 15,853,998UniSTSGRCh37
Build 36X15,763,779 - 15,763,919RGDNCBI36
CeleraX19,971,257 - 19,971,397RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,607,483 - 13,607,623UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
RH17799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,844,248 - 15,844,413UniSTSGRCh37
Build 36X15,754,169 - 15,754,334RGDNCBI36
CeleraX19,961,730 - 19,961,895RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,597,900 - 13,598,065UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
NCBI RH MapX10.0UniSTS
RH16361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371758,179,733 - 58,179,883UniSTSGRCh37
Build 361755,534,515 - 55,534,665RGDNCBI36
Celera1754,643,250 - 54,643,400RGD
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXp22.2UniSTS
HuRef1753,551,784 - 53,551,934UniSTS
GeneMap99-GB4 RH Map17380.53UniSTS
NCBI RH Map17667.6UniSTS
RH66697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,868,732 - 15,868,919UniSTSGRCh37
Build 36X15,778,653 - 15,778,840RGDNCBI36
CeleraX19,986,132 - 19,986,319RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,622,380 - 13,622,567UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
NCBI RH MapX10.0UniSTS
RH47344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,843,976 - 15,844,150UniSTSGRCh37
Build 36X15,753,897 - 15,754,071RGDNCBI36
CeleraX19,961,458 - 19,961,632RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,597,628 - 13,597,802UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
RH47350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,844,038 - 15,844,159UniSTSGRCh37
Build 36X15,753,959 - 15,754,080RGDNCBI36
CeleraX19,961,520 - 19,961,641RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,597,690 - 13,597,811UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
AP1S2__4320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,844,168 - 15,844,992UniSTSGRCh37
Build 36X15,754,089 - 15,754,913RGDNCBI36
CeleraX19,961,650 - 19,962,475RGD
HuRefX13,597,820 - 13,598,644UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR204hsa-miR-204-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//qRT-PCRFunctional MTI21282569

Predicted Target Of
Summary Value
Count of predictions:4151
Count of miRNA genes:1098
Interacting mature miRNAs:1395
Transcripts:ENST00000329235, ENST00000380291, ENST00000421527, ENST00000450644, ENST00000452376, ENST00000479184, ENST00000545766
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1812 2139 746 61 1344 45 2892 2018 2883 218 945 1125 29 1 951 2008 1
Low 627 851 975 558 606 415 1465 179 851 199 515 488 146 252 780 5 2
Below cutoff 1 5 5 1 5 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001272071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_247289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB015320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF251295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI462192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC391819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC401898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329235   ⟹   ENSP00000328789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,825,806 - 15,854,931 (-)Ensembl
RefSeq Acc Id: ENST00000380291   ⟹   ENSP00000369645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,830,059 - 15,854,804 (-)Ensembl
RefSeq Acc Id: ENST00000450644   ⟹   ENSP00000389474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,830,138 - 15,854,755 (-)Ensembl
RefSeq Acc Id: ENST00000452376   ⟹   ENSP00000403498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,826,892 - 15,852,513 (-)Ensembl
RefSeq Acc Id: ENST00000479184   ⟹   ENSP00000500850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,830,232 - 15,854,789 (-)Ensembl
RefSeq Acc Id: ENST00000545766   ⟹   ENSP00000444957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,827,029 - 15,854,791 (-)Ensembl
RefSeq Acc Id: ENST00000671830   ⟹   ENSP00000500483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,826,933 - 15,854,862 (-)Ensembl
RefSeq Acc Id: ENST00000672063   ⟹   ENSP00000500737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,826,987 - 15,854,818 (-)Ensembl
RefSeq Acc Id: ENST00000672987   ⟹   ENSP00000500695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,825,806 - 15,854,813 (-)Ensembl
RefSeq Acc Id: ENST00000673445   ⟹   ENSP00000500798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,826,887 - 15,852,906 (-)Ensembl
RefSeq Acc Id: ENST00000673591   ⟹   ENSP00000500066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,831,290 - 15,854,827 (-)Ensembl
RefSeq Acc Id: NM_001272071   ⟹   NP_001259000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,825,806 - 15,854,813 (-)NCBI
HuRefX13,597,581 - 13,626,785 (-)NCBI
CHM1_1X15,874,896 - 15,904,078 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001368994   ⟹   NP_001355923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,830,059 - 15,854,813 (-)NCBI
RefSeq Acc Id: NM_001369007   ⟹   NP_001355936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,830,059 - 15,854,813 (-)NCBI
RefSeq Acc Id: NM_001369008   ⟹   NP_001355937
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,830,059 - 15,854,813 (-)NCBI
RefSeq Acc Id: NM_003916   ⟹   NP_003907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,825,806 - 15,854,813 (-)NCBI
GRCh37X15,843,929 - 15,873,137 (-)NCBI
Build 36X15,753,850 - 15,783,021 (-)NCBI Archive
HuRefX13,597,581 - 13,626,785 (-)NCBI
CHM1_1X15,874,896 - 15,904,078 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160932
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,830,059 - 15,854,813 (-)NCBI
RefSeq Acc Id: NR_160933
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,830,059 - 15,854,813 (-)NCBI
RefSeq Acc Id: XR_001755741
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,830,059 - 15,854,966 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958809
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,825,808 - 15,852,899 (-)NCBI
Sequence:
RefSeq Acc Id: XR_247289
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,825,808 - 15,854,966 (-)NCBI
GRCh37X15,843,929 - 15,873,137 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003907   ⟸   NM_003916
- Peptide Label: isoform 2
- UniProtKB: P56377 (UniProtKB/Swiss-Prot),   Q549M9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001259000   ⟸   NM_001272071
- Peptide Label: isoform 1
- UniProtKB: F6SFB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001355923   ⟸   NM_001368994
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001355936   ⟸   NM_001369007
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001355937   ⟸   NM_001369008
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000500066   ⟸   ENST00000673591
RefSeq Acc Id: ENSP00000500798   ⟸   ENST00000673445
RefSeq Acc Id: ENSP00000500850   ⟸   ENST00000479184
RefSeq Acc Id: ENSP00000389474   ⟸   ENST00000450644
RefSeq Acc Id: ENSP00000403498   ⟸   ENST00000452376
RefSeq Acc Id: ENSP00000444957   ⟸   ENST00000545766
RefSeq Acc Id: ENSP00000328789   ⟸   ENST00000329235
RefSeq Acc Id: ENSP00000369645   ⟸   ENST00000380291
RefSeq Acc Id: ENSP00000500483   ⟸   ENST00000671830
RefSeq Acc Id: ENSP00000500737   ⟸   ENST00000672063
RefSeq Acc Id: ENSP00000500695   ⟸   ENST00000672987
Protein Domains
Clat_adaptor_s

Promoters
RGD ID:6808759
Promoter ID:HG_KWN:66096
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:ENST00000340245,   ENST00000380291,   NM_003916,   UC010NEX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X15,782,846 - 15,783,357 (-)MPROMDB
RGD ID:6852144
Promoter ID:EP73878
Type:initiation region
Name:HS_AP1S2
Description:Adaptor-related protein complex 1, sigma 2 subunit.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X15,782,857 - 15,782,917EPD
RGD ID:13604828
Promoter ID:EPDNEW_H28598
Type:initiation region
Name:AP1S2_1
Description:adaptor related protein complex 1 sigma 2 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,854,813 - 15,854,873EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter) single nucleotide variant Pettigrew syndrome [RCV000011524] ChrX:15852419 [GRCh38]
ChrX:15870542 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) single nucleotide variant Pettigrew syndrome [RCV000011525]|not provided [RCV000657599] ChrX:15852371 [GRCh38]
ChrX:15870494 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001272071.2(AP1S2):c.180-5_180-2del deletion Pettigrew syndrome [RCV000011526] ChrX:15846013..15846016 [GRCh38]
ChrX:15864136..15864139 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001272071.2(AP1S2):c.288+5G>A single nucleotide variant Pettigrew syndrome [RCV000011527] ChrX:15845898 [GRCh38]
ChrX:15864021 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter) single nucleotide variant Pettigrew syndrome [RCV000011528] ChrX:15845965 [GRCh38]
ChrX:15864088 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001272071.2(AP1S2):c.426+1G>T single nucleotide variant Pettigrew syndrome [RCV000128636] ChrX:15845378 [GRCh38]
ChrX:15863501 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) single nucleotide variant History of neurodevelopmental disorder [RCV000715815]|not provided [RCV000513795]|not specified [RCV000145012] ChrX:15845903 [GRCh38]
ChrX:15864026 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.2(chrX:15754290-16542056)x3 copy number gain See cases [RCV000142000] ChrX:15754290..16542056 [GRCh38]
ChrX:15772413..16560179 [GRCh37]
ChrX:15682334..16470100 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
NM_001272071.2(AP1S2):c.252T>C (p.His84=) single nucleotide variant not provided [RCV000152788] ChrX:15845939 [GRCh38]
ChrX:15864062 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001272071.2(AP1S2):c.289-2A>G single nucleotide variant not provided [RCV000522554] ChrX:15845518 [GRCh38]
ChrX:15863641 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001272071.2(AP1S2):c.92del (p.Thr31fs) deletion not provided [RCV000381965] ChrX:15852433 [GRCh38]
ChrX:15870556 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter) single nucleotide variant not provided [RCV000598807] ChrX:15852485 [GRCh38]
ChrX:15870608 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001272071.2(AP1S2):c.1-3C>A single nucleotide variant Pettigrew syndrome [RCV000449627] ChrX:15852527 [GRCh38]
ChrX:15870650 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001272071.2(AP1S2):c.427-9C>A single nucleotide variant not specified [RCV000428809] ChrX:15828209 [GRCh38]
ChrX:15846332 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.2(chrX:15445440-16061424)x2 copy number gain See cases [RCV000445674] ChrX:15445440..16061424 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001272071.2(AP1S2):c.281del (p.Phe94fs) deletion Pettigrew syndrome [RCV000504312] ChrX:15845910 [GRCh38]
ChrX:15864033 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001272071.2(AP1S2):c.289-8C>T single nucleotide variant not provided [RCV000902799]|not specified [RCV000502066] ChrX:15845524 [GRCh38]
ChrX:15863647 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001272071.2(AP1S2):c.436-5C>T single nucleotide variant not specified [RCV000615670] ChrX:15827377 [GRCh38]
ChrX:15845500 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:15486059-16018163)x3 copy number gain not provided [RCV000684277] ChrX:15486059..16018163 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:15772413-16261761)x3 copy number gain not provided [RCV000684278] ChrX:15772413..16261761 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
NM_001272071.2(AP1S2):c.*1C>T single nucleotide variant History of neurodevelopmental disorder [RCV000718022] ChrX:15827324 [GRCh38]
ChrX:15845447 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2(chrX:15290053-16071445)x3 copy number gain not provided [RCV000753391] ChrX:15290053..16071445 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001272071.2(AP1S2):c.289-9C>T single nucleotide variant not provided [RCV000967598] ChrX:15845525 [GRCh38]
ChrX:15863648 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:15674802-16147121)x2 copy number gain not provided [RCV000848577] ChrX:15674802..16147121 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1 copy number loss not provided [RCV001007265] ChrX:15415636..18339030 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:15334953-16221373)x2 copy number gain not provided [RCV000846122] ChrX:15334953..16221373 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.2(chrX:15172188-16136635)x2 copy number gain not provided [RCV000848087] ChrX:15172188..16136635 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.2(chrX:14897121-15895646)x3 copy number gain not provided [RCV000846206] ChrX:14897121..15895646 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001272071.2(AP1S2):c.-1+1G>A single nucleotide variant Pettigrew syndrome [RCV001194623] ChrX:15854687 [GRCh38]
ChrX:15872810 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:15319722-16018163)x2 copy number gain not provided [RCV001007264] ChrX:15319722..16018163 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:15844346-16213556)x3 copy number gain not provided [RCV001007267] ChrX:15844346..16213556 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs) deletion Pettigrew syndrome [RCV001248805] ChrX:15845471..15845484 [GRCh38]
ChrX:15863594..15863607 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:15674696-16049674)x3 copy number gain not provided [RCV001007266] ChrX:15674696..16049674 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001272071.2(AP1S2):c.178dup (p.Arg60fs) duplication not provided [RCV001311053] ChrX:15852346..15852347 [GRCh38]
ChrX:15870469..15870470 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001272071.2(AP1S2):c.54G>A (p.Trp18Ter) single nucleotide variant not provided [RCV001281651] ChrX:15852471 [GRCh38]
ChrX:15870594 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001272071.2(AP1S2):c.472G>A (p.Gly158Arg) single nucleotide variant not provided [RCV001342422] ChrX:15827336 [GRCh38]
ChrX:15845459 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001272071.2(AP1S2):c.1-2A>G single nucleotide variant Pettigrew syndrome [RCV001270029] ChrX:15852526 [GRCh38]
ChrX:15870649 [GRCh37]
ChrX:Xp22.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:560 AgrOrtholog
COSMIC AP1S2 COSMIC
Ensembl Genes ENSG00000182287 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000328789 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369645 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000389474 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000403498 UniProtKB/TrEMBL
  ENSP00000444957 UniProtKB/TrEMBL
  ENSP00000500066 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500483 UniProtKB/TrEMBL
  ENSP00000500695 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500737 UniProtKB/TrEMBL
  ENSP00000500798 UniProtKB/TrEMBL
  ENSP00000500850 UniProtKB/TrEMBL
Ensembl Transcript ENST00000329235 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380291 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000450644 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000452376 UniProtKB/TrEMBL
  ENST00000479184 UniProtKB/TrEMBL
  ENST00000545766 UniProtKB/TrEMBL
  ENST00000671830 UniProtKB/TrEMBL
  ENST00000672063 UniProtKB/TrEMBL
  ENST00000672987 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000673445 UniProtKB/TrEMBL
  ENST00000673591 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000182287 GTEx
HGNC ID HGNC:560 ENTREZGENE
Human Proteome Map AP1S2 Human Proteome Map
InterPro AP_complex_ssu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AP_mu_sigma_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clathrin_sm-chain_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Longin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8905 ENTREZGENE
OMIM 300629 OMIM
  304340 OMIM
PANTHER PTHR11753 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Clat_adaptor_s UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB AP1S2 RGD, PharmGKB
PIRSF AP_complex_sigma UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CLAT_ADAPTOR_S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF64356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBX8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHW1_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHX2_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI43_HUMAN UniProtKB/TrEMBL
  A6NH01_HUMAN UniProtKB/TrEMBL
  AP1S2_HUMAN UniProtKB/Swiss-Prot
  F6SFB5 ENTREZGENE, UniProtKB/TrEMBL
  H0Y673_HUMAN UniProtKB/TrEMBL
  H7BZG6_HUMAN UniProtKB/TrEMBL
  P56377 ENTREZGENE
  Q549M9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DSU4 UniProtKB/Swiss-Prot
  O95326 UniProtKB/Swiss-Prot
  Q9H2N6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 AP1S2  adaptor related protein complex 1 subunit sigma 2  AP1S2  adaptor related protein complex 1 sigma 2 subunit  Symbol and/or name change 5135510 APPROVED
2016-04-28 AP1S2  adaptor related protein complex 1 sigma 2 subunit  PGS  Pettigrew X-linked mental retardation syndrome  Data Merged 737654 PROVISIONAL
2016-03-15 AP1S2  adaptor related protein complex 1 sigma 2 subunit  MRX59  mental retardation, X-linked 59  Data Merged 737654 PROVISIONAL
2015-12-22 AP1S2  adaptor related protein complex 1 sigma 2 subunit  AP1S2  adaptor-related protein complex 1 sigma 2 subunit  Symbol and/or name change 5135510 APPROVED
2015-11-10 AP1S2  adaptor-related protein complex 1 sigma 2 subunit  AP1S2  adaptor-related protein complex 1, sigma 2 subunit  Symbol and/or name change 5135510 APPROVED