CHIC1 (cysteine rich hydrophobic domain 1) - Rat Genome Database

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Gene: CHIC1 (cysteine rich hydrophobic domain 1) Homo sapiens
Analyze
Symbol: CHIC1
Name: cysteine rich hydrophobic domain 1
RGD ID: 1349014
HGNC Page HGNC:1934
Description: Predicted to be located in cytoplasmic vesicle and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: brain X-linked protein; BRX; cystein-rich hydrophobic domain 1; cysteine-rich hydrophobic domain 1 protein; cysteine-rich hydrophobic domain-containing protein 1; DKFZp313P1931; DKFZp686F2342
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
GRCh38X73,563,148 - 73,687,111 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX73,563,197 - 73,687,111 (+)EnsemblGRCh38hg38GRCh38
GRCh37X72,782,984 - 72,906,946 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X72,699,709 - 72,823,662 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X72,683,810 - 72,684,147NCBI
CeleraX73,066,460 - 73,190,414 (+)NCBICelera
Cytogenetic MapXq13.2NCBI
HuRefX66,415,920 - 66,540,598 (+)NCBIHuRef
CHM1_1X72,675,825 - 72,799,741 (+)NCBICHM1_1
T2T-CHM13v2.0X71,996,510 - 72,120,438 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Prostate cancer  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9321471   PMID:11257495   PMID:12477932   PMID:15489334   PMID:15772651   PMID:33961781  


Genomics

Comparative Map Data
CHIC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X73,563,148 - 73,687,111 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX73,563,197 - 73,687,111 (+)EnsemblGRCh38hg38GRCh38
GRCh37X72,782,984 - 72,906,946 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X72,699,709 - 72,823,662 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X72,683,810 - 72,684,147NCBI
CeleraX73,066,460 - 73,190,414 (+)NCBICelera
Cytogenetic MapXq13.2NCBI
HuRefX66,415,920 - 66,540,598 (+)NCBIHuRef
CHM1_1X72,675,825 - 72,799,741 (+)NCBICHM1_1
T2T-CHM13v2.0X71,996,510 - 72,120,438 (+)NCBIT2T-CHM13v2.0
Chic1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X102,400,009 - 102,452,698 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX102,400,082 - 102,439,698 (+)EnsemblGRCm39 Ensembl
GRCm38X103,356,403 - 103,409,092 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX103,356,476 - 103,396,092 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X100,551,815 - 100,591,457 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X99,559,275 - 99,592,761 (+)NCBIMGSCv36mm8
CeleraX90,259,397 - 90,298,960 (+)NCBICelera
Cytogenetic MapXDNCBI
cM MapX46.08NCBI
Chic1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X72,427,851 - 72,471,924 (+)NCBIGRCr8
mRatBN7.2X68,362,014 - 68,406,155 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX68,361,969 - 68,437,887 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX69,871,276 - 69,915,347 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X73,371,522 - 73,415,588 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X70,932,706 - 70,976,774 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X74,205,649 - 74,250,613 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX74,200,972 - 74,244,846 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X75,012,806 - 75,056,683 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X91,321,388 - 91,359,707 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX69,729,260 - 69,773,943 (+)NCBICelera
Cytogenetic MapXq22NCBI
Chic1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955591580,764 - 653,469 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955591581,415 - 659,840 (+)NCBIChiLan1.0ChiLan1.0
CHIC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X73,237,784 - 73,353,774 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X73,244,031 - 73,357,382 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X62,809,942 - 62,923,345 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X72,932,415 - 73,047,011 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX72,932,415 - 73,040,911 (+)Ensemblpanpan1.1panPan2
CHIC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X57,198,789 - 57,274,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX57,198,944 - 57,254,522 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX48,375,504 - 48,450,432 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X58,408,824 - 58,483,808 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX58,408,972 - 58,483,911 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X56,155,622 - 56,230,554 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X57,733,664 - 57,808,690 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X57,340,553 - 57,415,496 (+)NCBIUU_Cfam_GSD_1.0
Chic1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X44,440,494 - 44,550,163 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936683397,568 - 463,398 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936683397,609 - 491,491 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHIC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX59,176,604 - 59,230,783 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X59,176,650 - 59,230,332 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X67,050,837 - 67,104,842 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHIC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X63,124,857 - 63,244,752 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX63,124,918 - 63,241,072 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660655,070,964 - 5,213,179 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chic1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248367,868,057 - 7,961,990 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248367,868,157 - 8,012,983 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHIC1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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: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:10679-156013167)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-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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 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 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1		 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 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3		 pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 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: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: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-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-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-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
NM_001039840.2(CHIC1):c.665G>A (p.Arg222Gln) single nucleotide variant Malignant melanoma [RCV000073249] ChrX:73680995 [GRCh38]
ChrX:72900830 [GRCh37]
ChrX:72817555 [NCBI36]
ChrX:Xq13.2		 not provided
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-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)x3 copy number gain See cases [RCV000050385] 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)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: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: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: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-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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1		 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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 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-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-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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
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-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-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 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
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-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-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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1		 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-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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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-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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3		 pathogenic
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 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
NM_001039840.4(CHIC1):c.331C>T (p.Pro111Ser) single nucleotide variant Malignant tumor of prostate [RCV000206759] ChrX:73577441 [GRCh38]
ChrX:72797277 [GRCh37]
ChrX:Xq13.2		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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: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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
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-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
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 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
GRCh37/hg19 Xq13.2(chrX:72827998-72867117)x2 copy number gain See cases [RCV000448106] ChrX:72827998..72867117 [GRCh37]
ChrX:Xq13.2		 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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 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
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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 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-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2(chrX:72826452-72830518)x1 copy number loss not provided [RCV000753594] ChrX:72826452..72830518 [GRCh37]
ChrX:Xq13.2		 benign
GRCh37/hg19 Xq13.2(chrX:72826452-72884536)x0 copy number loss not provided [RCV000753595] ChrX:72826452..72884536 [GRCh37]
ChrX:Xq13.2		 benign
GRCh37/hg19 Xq13.2(chrX:72826452-73177423)x0 copy number loss not provided [RCV000753596] ChrX:72826452..73177423 [GRCh37]
ChrX:Xq13.2		 benign
GRCh37/hg19 Xq13.2(chrX:72827505-72830012)x0 copy number loss not provided [RCV000753597] ChrX:72827505..72830012 [GRCh37]
ChrX:Xq13.2		 benign
GRCh37/hg19 Xq13.2(chrX:72828034-72830012)x0 copy number loss not provided [RCV000753598] ChrX:72828034..72830012 [GRCh37]
ChrX:Xq13.2		 benign
GRCh37/hg19 Xq13.2(chrX:72828034-72830518)x0 copy number loss not provided [RCV000753599] ChrX:72828034..72830518 [GRCh37]
ChrX:Xq13.2		 benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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 Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2(chrX:72024935-73087982)x3 copy number gain not provided [RCV002473834] ChrX:72024935..73087982 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_001039840.4(CHIC1):c.337G>A (p.Val113Ile) single nucleotide variant not provided [RCV001572754]|not specified [RCV004039382] ChrX:73577447 [GRCh38]
ChrX:72797283 [GRCh37]
ChrX:Xq13.2		 likely benign|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) copy number gain not specified [RCV002053136] ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) copy number gain not specified [RCV002053135] ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505) copy number gain not specified [RCV002053147] ChrX:72095006..88455505 [GRCh37]
ChrX:Xq13.2-21.31		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001039840.4(CHIC1):c.231C>G (p.Ser77Arg) single nucleotide variant not specified [RCV004298732] ChrX:73563515 [GRCh38]
ChrX:72783351 [GRCh37]
ChrX:Xq13.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001039840.4(CHIC1):c.155A>C (p.Glu52Ala) single nucleotide variant not specified [RCV004248352] ChrX:73563439 [GRCh38]
ChrX:72783275 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_001039840.4(CHIC1):c.164A>G (p.Glu55Gly) single nucleotide variant not specified [RCV004263337] ChrX:73563448 [GRCh38]
ChrX:72783284 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_001039840.4(CHIC1):c.256C>T (p.Pro86Ser) single nucleotide variant not specified [RCV004300034] ChrX:73563540 [GRCh38]
ChrX:72783376 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_001039840.4(CHIC1):c.397T>A (p.Cys133Ser) single nucleotide variant not specified [RCV004352360] ChrX:73584462 [GRCh38]
ChrX:72804298 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_001039840.4(CHIC1):c.133G>A (p.Glu45Lys) single nucleotide variant not specified [RCV004334786] ChrX:73563417 [GRCh38]
ChrX:72783253 [GRCh37]
ChrX:Xq13.2		 uncertain significance
GRCh37/hg19 Xq13.2(chrX:72890072-73123210)x3 copy number gain not provided [RCV003485301] ChrX:72890072..73123210 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_001039840.4(CHIC1):c.162_176del (p.Glu64_Glu68del) deletion not provided [RCV003439652] ChrX:73563435..73563449 [GRCh38]
ChrX:72783271..72783285 [GRCh37]
ChrX:Xq13.2		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) copy number gain not specified [RCV003986211] ChrX:61877278..79122848 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xq13.2(chrX:72750667-72858194) copy number loss not specified [RCV003986294] ChrX:72750667..72858194 [GRCh37]
ChrX:Xq13.2		 uncertain significance
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
NM_001039840.4(CHIC1):c.149A>G (p.Glu50Gly) single nucleotide variant not specified [RCV004439227] ChrX:73563433 [GRCh38]
ChrX:72783269 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_001039840.4(CHIC1):c.256C>G (p.Pro86Ala) single nucleotide variant not specified [RCV004439228] ChrX:73563540 [GRCh38]
ChrX:72783376 [GRCh37]
ChrX:Xq13.2		 uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NC_000023.11:g.(?_66445907)_(78172208_?)dup duplication Xq13q21 duplication [RCV003885331] ChrX:66445907..78172208 [GRCh38]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4954
Count of miRNA genes:1167
Interacting mature miRNAs:1494
Transcripts:ENST00000373502, ENST00000373504, ENST00000498318, ENST00000498407
Prediction methods:Miranda, Pita, Pita,Targetscan, 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
RH47603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X72,900,900 - 72,901,032UniSTSGRCh37
Build 36X72,817,625 - 72,817,757RGDNCBI36
CeleraX73,184,377 - 73,184,509RGD
Cytogenetic MapXq13.2UniSTS
HuRefX66,534,561 - 66,534,693UniSTS
GeneMap99-GB4 RH MapX247.0UniSTS
G43618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X72,906,796 - 72,906,920UniSTSGRCh37
GRCh37X36,764,438 - 36,764,562UniSTSGRCh37
Build 36X36,674,359 - 36,674,483RGDNCBI36
CeleraX40,892,099 - 40,892,223RGD
CeleraX73,190,273 - 73,190,397UniSTS
Cytogenetic MapXq13.2UniSTS
HuRefX34,509,725 - 34,509,849UniSTS
HuRefX66,540,457 - 66,540,581UniSTS
RH101974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X72,906,636 - 72,906,791UniSTSGRCh37
GRCh37X36,764,278 - 36,764,433UniSTSGRCh37
Build 36X36,674,199 - 36,674,354RGDNCBI36
CeleraX40,891,939 - 40,892,094RGD
CeleraX73,190,113 - 73,190,268UniSTS
Cytogenetic MapXq13.2UniSTS
HuRefX34,509,565 - 34,509,720UniSTS
HuRefX66,540,297 - 66,540,452UniSTS
G60259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X72,906,511 - 72,906,849UniSTSGRCh37
GRCh37X36,764,153 - 36,764,491UniSTSGRCh37
Build 36X36,674,074 - 36,674,412RGDNCBI36
CeleraX40,891,814 - 40,892,152RGD
CeleraX73,189,988 - 73,190,326UniSTS
Cytogenetic MapXq13.2UniSTS
HuRefX34,509,440 - 34,509,778UniSTS
HuRefX66,540,172 - 66,540,510UniSTS
TNG Radiation Hybrid MapX18228.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2419 2788 2253 4973 1722 2342 6 619 1935 461 2269 7282 6456 52 3734 1 852 1737 1612 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI580377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC382882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000373502   ⟹   ENSP00000362601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX73,563,197 - 73,687,111 (+)Ensembl
Ensembl Acc Id: ENST00000373504   ⟹   ENSP00000362603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX73,563,200 - 73,687,102 (+)Ensembl
Ensembl Acc Id: ENST00000498318   ⟹   ENSP00000473482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX73,563,452 - 73,683,215 (+)Ensembl
Ensembl Acc Id: ENST00000498407   ⟹   ENSP00000432985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX73,563,282 - 73,686,773 (+)Ensembl
RefSeq Acc Id: NM_001039840   ⟹   NP_001034929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,563,197 - 73,687,111 (+)NCBI
GRCh37X72,782,984 - 72,906,937 (+)RGD
Build 36X72,699,709 - 72,823,662 (+)NCBI Archive
CeleraX73,066,460 - 73,190,414 (+)RGD
HuRefX66,415,920 - 66,540,598 (+)ENTREZGENE
CHM1_1X72,675,825 - 72,799,741 (+)NCBI
T2T-CHM13v2.0X71,996,559 - 72,120,438 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001300884   ⟹   NP_001287813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,563,148 - 73,687,109 (+)NCBI
CHM1_1X72,675,825 - 72,799,748 (+)NCBI
T2T-CHM13v2.0X71,996,510 - 72,120,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029582   ⟹   XP_016885071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,563,148 - 73,594,326 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029583   ⟹   XP_016885072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,577,407 - 73,687,111 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029584   ⟹   XP_016885073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,563,148 - 73,581,721 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054327211   ⟹   XP_054183186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X71,996,510 - 72,027,688 (+)NCBI
RefSeq Acc Id: XM_054327212   ⟹   XP_054183187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X72,010,769 - 72,120,438 (+)NCBI
RefSeq Acc Id: XM_054327213   ⟹   XP_054183188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X71,996,510 - 72,015,083 (+)NCBI
RefSeq Acc Id: XR_001755699
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,563,148 - 73,584,503 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008485482
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X71,996,510 - 72,017,865 (+)NCBI
RefSeq Acc Id: NP_001034929   ⟸   NM_001039840
- Peptide Label: isoform 1
- UniProtKB: B9EGS5 (UniProtKB/Swiss-Prot),   B0QZ87 (UniProtKB/Swiss-Prot),   A0PJZ2 (UniProtKB/Swiss-Prot),   Q5CZ84 (UniProtKB/Swiss-Prot),   Q5VXU3 (UniProtKB/Swiss-Prot),   B7Z4S5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287813   ⟸   NM_001300884
- Peptide Label: isoform 2
- UniProtKB: B7Z4S5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885071   ⟸   XM_017029582
- Peptide Label: isoform X1
- UniProtKB: B7Z3I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885073   ⟸   XM_017029584
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885072   ⟸   XM_017029583
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000362601   ⟸   ENST00000373502
Ensembl Acc Id: ENSP00000362603   ⟸   ENST00000373504
Ensembl Acc Id: ENSP00000432985   ⟸   ENST00000498407
Ensembl Acc Id: ENSP00000473482   ⟸   ENST00000498318
RefSeq Acc Id: XP_054183186   ⟸   XM_054327211
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183188   ⟸   XM_054327213
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183187   ⟸   XM_054327212
- Peptide Label: isoform X2
Protein Domains
Golgin subfamily A member 7/ERF4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VXU3-F1-model_v2 AlphaFold Q5VXU3 1-224 view protein structure

Promoters
RGD ID:6808586
Promoter ID:HG_KWN:67261
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_001039840,   NR_029423,   OTTHUMT00000057235,   UC004EBL.2,   UC010NLO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X72,699,791 - 72,700,427 (+)MPROMDB
RGD ID:13627470
Promoter ID:EPDNEW_H29010
Type:initiation region
Name:CHIC1_2
Description:cysteine rich hydrophobic domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29011  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,563,176 - 73,563,236EPDNEW
RGD ID:13627472
Promoter ID:EPDNEW_H29011
Type:initiation region
Name:CHIC1_1
Description:cysteine rich hydrophobic domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29010  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X73,563,291 - 73,563,351EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1934 AgrOrtholog
COSMIC CHIC1 COSMIC
Ensembl Genes ENSG00000204116 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373502 ENTREZGENE
  ENST00000373502.10 UniProtKB/Swiss-Prot
  ENST00000373504 ENTREZGENE
  ENST00000373504.10 UniProtKB/Swiss-Prot
  ENST00000498318.1 UniProtKB/TrEMBL
  ENST00000498407.5 UniProtKB/TrEMBL
GTEx ENSG00000204116 GTEx
HGNC ID HGNC:1934 ENTREZGENE
Human Proteome Map CHIC1 Human Proteome Map
InterPro CHIC1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Golgin_A_7/ERF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:53344 UniProtKB/Swiss-Prot
NCBI Gene 53344 ENTREZGENE
OMIM 300922 OMIM
PANTHER CYSTEINE-RICH HYDROPHOBIC DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13005 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Erf4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26465 PharmGKB
UniProt A0PJZ2 ENTREZGENE
  B0QZ87 ENTREZGENE
  B7Z3I1 ENTREZGENE, UniProtKB/TrEMBL
  B7Z4S5 ENTREZGENE, UniProtKB/TrEMBL
  B9EGS5 ENTREZGENE
  CHIC1_HUMAN UniProtKB/Swiss-Prot
  Q5CZ84 ENTREZGENE
  Q5VXU3 ENTREZGENE
  R4GN46_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0PJZ2 UniProtKB/Swiss-Prot
  B0QZ87 UniProtKB/Swiss-Prot
  B9EGS5 UniProtKB/Swiss-Prot
  Q5CZ84 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 CHIC1  cysteine rich hydrophobic domain 1    cysteine-rich hydrophobic domain 1  Symbol and/or name change 5135510 APPROVED