ADAM29 (ADAM metallopeptidase domain 29) - Rat Genome Database

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Gene: ADAM29 (ADAM metallopeptidase domain 29) Homo sapiens
Analyze
Symbol: ADAM29
Name: ADAM metallopeptidase domain 29
RGD ID: 1342886
HGNC Page HGNC:207
Description: Predicted to enable metalloendopeptidase activity. Predicted to be involved in male gonad development and proteolysis. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane and sperm head plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: a disintegrin and metalloproteinase domain 29; ADAM 29; cancer/testis antigen 73; CT73; disintegrin and metalloproteinase domain-containing protein 29; metallaproteinase-disintegrin (ADAM29); svph1; testis secretory sperm-binding protein Li 207a
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ADAM24P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384174,918,358 - 174,978,180 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4174,829,668 - 174,978,180 (+)EnsemblGRCh38hg38GRCh38
GRCh374175,839,509 - 175,899,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364176,076,134 - 176,135,906 (+)NCBINCBI36Build 36hg18NCBI36
Build 344176,271,406 - 176,273,692NCBI
Celera4173,168,616 - 173,228,548 (+)NCBICelera
Cytogenetic Map4q34.1NCBI
HuRef4171,588,769 - 171,648,620 (+)NCBIHuRef
CHM1_14175,815,949 - 175,875,773 (+)NCBICHM1_1
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10512762   PMID:10644455   PMID:12477932   PMID:15802535   PMID:16344560   PMID:19340428   PMID:21618342   PMID:21873635   PMID:23535729   PMID:24732660   PMID:26977022   PMID:33961781  


Genomics

Comparative Map Data
ADAM29
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384174,918,358 - 174,978,180 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4174,829,668 - 174,978,180 (+)EnsemblGRCh38hg38GRCh38
GRCh374175,839,509 - 175,899,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364176,076,134 - 176,135,906 (+)NCBINCBI36Build 36hg18NCBI36
Build 344176,271,406 - 176,273,692NCBI
Celera4173,168,616 - 173,228,548 (+)NCBICelera
Cytogenetic Map4q34.1NCBI
HuRef4171,588,769 - 171,648,620 (+)NCBIHuRef
CHM1_14175,815,949 - 175,875,773 (+)NCBICHM1_1
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBIT2T-CHM13v2.0
Adam29
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39856,323,947 - 56,359,999 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl856,323,947 - 56,359,983 (-)EnsemblGRCm39 Ensembl
GRCm38855,870,912 - 55,906,964 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl855,870,912 - 55,906,948 (-)EnsemblGRCm38mm10GRCm38
MGSCv37858,349,709 - 58,385,761 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36858,763,054 - 58,799,090 (-)NCBIMGSCv36mm8
Celera858,527,430 - 58,566,352 (-)NCBICelera
Cytogenetic Map8B2NCBI
cM Map829.68NCBI
Adam24
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81658,281,748 - 58,287,735 (-)NCBIGRCr8
mRatBN7.21651,578,278 - 51,584,265 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1651,578,277 - 51,584,312 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01654,625,789 - 54,631,824 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1654,625,847 - 54,628,458 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01654,333,065 - 54,339,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41654,916,429 - 54,918,651 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11654,916,503 - 54,918,726 (-)NCBI
Celera1649,470,643 - 49,476,678 (-)NCBICelera
Cytogenetic Map16q12.1NCBI
Adam29
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540332,233,949 - 32,236,375 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540332,233,940 - 32,257,782 (-)NCBIChiLan1.0ChiLan1.0
ADAM29
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23172,666,680 - 172,727,706 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14173,046,705 - 173,107,718 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04167,133,174 - 167,194,160 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14179,368,671 - 179,428,753 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4179,426,082 - 179,428,753 (+)Ensemblpanpan1.1panPan2
ADAM29
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12525,372,342 - 25,442,760 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2526,024,913 - 26,095,792 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02525,536,308 - 25,607,243 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2525,604,567 - 25,607,212 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12525,470,229 - 25,540,838 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02525,373,125 - 25,443,529 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02525,524,740 - 25,595,635 (+)NCBIUU_Cfam_GSD_1.0
ADAM29
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11415,302,879 - 15,307,649 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21416,491,921 - 16,530,014 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADAM29
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17121,006,675 - 121,053,292 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037101,073,375 - 101,127,006 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adam29
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247696,491,682 - 6,509,400 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADAM29
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171507504-181381327)x3 copy number gain See cases [RCV000051793] Chr4:171507504..181381327 [GRCh38]
Chr4:172428655..182302480 [GRCh37]
Chr4:172665230..182539474 [NCBI36]
Chr4:4q34.1-34.3
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1 copy number loss See cases [RCV000053354] Chr4:174080892..183195538 [GRCh38]
Chr4:175002043..184116691 [GRCh37]
Chr4:175238618..184353685 [NCBI36]
Chr4:4q34.1-35.1
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1 copy number loss See cases [RCV000053350] Chr4:171851295..178772816 [GRCh38]
Chr4:172772446..179693970 [GRCh37]
Chr4:173009021..179930964 [NCBI36]
Chr4:4q34.1-34.3
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
NM_001130703.1(ADAM29):c.331G>A (p.Glu111Lys) single nucleotide variant Malignant melanoma [RCV000066342] Chr4:174975856 [GRCh38]
Chr4:175897007 [GRCh37]
Chr4:176133582 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.781G>A (p.Asp261Asn) single nucleotide variant Malignant melanoma [RCV000066343] Chr4:174976306 [GRCh38]
Chr4:175897457 [GRCh37]
Chr4:176134032 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.914G>A (p.Gly305Glu) single nucleotide variant Malignant melanoma [RCV000066344] Chr4:174976439 [GRCh38]
Chr4:175897590 [GRCh37]
Chr4:176134165 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1033G>A (p.Asp345Asn) single nucleotide variant Malignant melanoma [RCV000066345] Chr4:174976558 [GRCh38]
Chr4:175897709 [GRCh37]
Chr4:176134284 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1251G>A (p.Lys417=) single nucleotide variant Malignant melanoma [RCV000066346] Chr4:174976776 [GRCh38]
Chr4:175897927 [GRCh37]
Chr4:176134502 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1301G>A (p.Gly434Asp) single nucleotide variant Malignant melanoma [RCV000066347] Chr4:174976826 [GRCh38]
Chr4:175897977 [GRCh37]
Chr4:176134552 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1521G>A (p.Arg507=) single nucleotide variant Malignant melanoma [RCV000066348] Chr4:174977046 [GRCh38]
Chr4:175898197 [GRCh37]
Chr4:176134772 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1597C>T (p.His533Tyr) single nucleotide variant Malignant melanoma [RCV000066349] Chr4:174977122 [GRCh38]
Chr4:175898273 [GRCh37]
Chr4:176134848 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1766G>A (p.Gly589Glu) single nucleotide variant Malignant melanoma [RCV000066350] Chr4:174977291 [GRCh38]
Chr4:175898442 [GRCh37]
Chr4:176135017 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1802G>A (p.Gly601Glu) single nucleotide variant Malignant melanoma [RCV000066351] Chr4:174977327 [GRCh38]
Chr4:175898478 [GRCh37]
Chr4:176135053 [NCBI36]
Chr4:4q34.1
not provided
NM_014269.4(ADAM29):c.2270C>T (p.Ser757Phe) single nucleotide variant not specified [RCV004444257] Chr4:174977795 [GRCh38]
Chr4:175898946 [GRCh37]
Chr4:176135521 [NCBI36]
Chr4:4q34.1
uncertain significance|not provided
NM_001130703.1(ADAM29):c.769A>T (p.Ile257Phe) single nucleotide variant Malignant melanoma [RCV000060951] Chr4:174976294 [GRCh38]
Chr4:175897445 [GRCh37]
Chr4:176134020 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.1208G>A (p.Gly403Asp) single nucleotide variant Malignant melanoma [RCV000060952] Chr4:174976733 [GRCh38]
Chr4:175897884 [GRCh37]
Chr4:176134459 [NCBI36]
Chr4:4q34.1
not provided
NM_001130703.1(ADAM29):c.-180-16529T>C single nucleotide variant Lung cancer [RCV000094356] Chr4:174958817 [GRCh38]
Chr4:175879968 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2
likely pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2
uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960) copy number loss See cases [RCV000141653] Chr4:166630207..179820960 [GRCh38]
Chr4:167551358..180742113 [GRCh37]
Chr4:167770808..180979107 [NCBI36]
Chr4:4q32.3-34.3
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 copy number loss See cases [RCV000239855] Chr4:162344510..177103037 [GRCh37]
Chr4:4q32.2-34.2
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1 copy number loss FETAL DEMISE [RCV002282976] Chr4:174944132..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 copy number loss See cases [RCV000446613] Chr4:175550289..190838582 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q34.1(chr4:175325630-175904098)x1 copy number loss See cases [RCV000446686] Chr4:175325630..175904098 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 copy number loss See cases [RCV000445881] Chr4:175749001..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 copy number loss See cases [RCV000448048] Chr4:175550289..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q34.1(chr4:174478959-175855409)x1 copy number loss See cases [RCV000511222] Chr4:174478959..175855409 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q34.1-34.2(chr4:173907396-176305880)x4 copy number gain See cases [RCV000510908] Chr4:173907396..176305880 [GRCh37]
Chr4:4q34.1-34.2
uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 copy number loss See cases [RCV000512340] Chr4:162205710..182329883 [GRCh37]
Chr4:4q32.2-34.3
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 copy number loss not provided [RCV000682492] Chr4:175709188..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1
pathogenic
GRCh37/hg19 4q34.1-34.2(chr4:175568901-176634198)x4 copy number gain not provided [RCV000682491] Chr4:175568901..176634198 [GRCh37]
Chr4:4q34.1-34.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:174610492..190427545 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_014269.4(ADAM29):c.1502G>A (p.Arg501His) single nucleotide variant not specified [RCV004294918] Chr4:174977027 [GRCh38]
Chr4:175898178 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787439] Chr4:171316973..180632505 [GRCh37]
Chr4:4q33-34.3
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 copy number gain not provided [RCV000846267] Chr4:165069355..177189728 [GRCh37]
Chr4:4q32.3-34.2
pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q34.1(chr4:175624313-175969985)x3 copy number gain not provided [RCV001005623] Chr4:175624313..175969985 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 copy number loss See cases [RCV001263167] Chr4:169108358..184425536 [GRCh37]
Chr4:4q32.3-35.1
pathogenic
GRCh37/hg19 4q34.1(chr4:175622804-175877725) copy number gain not specified [RCV002053470] Chr4:175622804..175877725 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q34.1(chr4:175721874-176295240)x3 copy number gain not provided [RCV001827713] Chr4:175721874..176295240 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q34.1-34.2(chr4:175569106-176634198) copy number gain not specified [RCV002053468] Chr4:175569106..176634198 [GRCh37]
Chr4:4q34.1-34.2
uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) copy number gain not specified [RCV002053471] Chr4:175855408..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss See cases [RCV002292706] Chr4:167779888..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
NM_014269.4(ADAM29):c.2273A>G (p.Gln758Arg) single nucleotide variant not specified [RCV004311212] Chr4:174977798 [GRCh38]
Chr4:175898949 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.182A>G (p.Gln61Arg) single nucleotide variant not specified [RCV004324543] Chr4:174975707 [GRCh38]
Chr4:175896858 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.463G>A (p.Glu155Lys) single nucleotide variant not specified [RCV004173070] Chr4:174975988 [GRCh38]
Chr4:175897139 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.7A>G (p.Met3Val) single nucleotide variant not specified [RCV004206948] Chr4:174975532 [GRCh38]
Chr4:175896683 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2042T>C (p.Ile681Thr) single nucleotide variant not specified [RCV004133786] Chr4:174977567 [GRCh38]
Chr4:175898718 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.124A>G (p.Thr42Ala) single nucleotide variant not specified [RCV004095058] Chr4:174975649 [GRCh38]
Chr4:175896800 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1910A>T (p.Asn637Ile) single nucleotide variant not specified [RCV004106248] Chr4:174977435 [GRCh38]
Chr4:175898586 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.193A>T (p.Ile65Phe) single nucleotide variant not specified [RCV004182339] Chr4:174975718 [GRCh38]
Chr4:175896869 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1937A>T (p.Tyr646Phe) single nucleotide variant not specified [RCV004226781] Chr4:174977462 [GRCh38]
Chr4:175898613 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1893C>A (p.Asn631Lys) single nucleotide variant not specified [RCV004129382] Chr4:174977418 [GRCh38]
Chr4:175898569 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.845A>C (p.Gln282Pro) single nucleotide variant not specified [RCV004088718] Chr4:174976370 [GRCh38]
Chr4:175897521 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2179G>A (p.Glu727Lys) single nucleotide variant not specified [RCV004139413] Chr4:174977704 [GRCh38]
Chr4:175898855 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1109G>A (p.Ser370Asn) single nucleotide variant not specified [RCV004110571] Chr4:174976634 [GRCh38]
Chr4:175897785 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.833C>T (p.Thr278Met) single nucleotide variant not specified [RCV004198840] Chr4:174976358 [GRCh38]
Chr4:175897509 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.799C>T (p.His267Tyr) single nucleotide variant not specified [RCV004143459] Chr4:174976324 [GRCh38]
Chr4:175897475 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.116T>C (p.Ile39Thr) single nucleotide variant not specified [RCV004219189] Chr4:174975641 [GRCh38]
Chr4:175896792 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.133G>A (p.Gly45Ser) single nucleotide variant not specified [RCV004092257] Chr4:174975658 [GRCh38]
Chr4:175896809 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1540A>G (p.Asn514Asp) single nucleotide variant not specified [RCV004232337] Chr4:174977065 [GRCh38]
Chr4:175898216 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.467A>G (p.Glu156Gly) single nucleotide variant not specified [RCV004224543] Chr4:174975992 [GRCh38]
Chr4:175897143 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2449G>C (p.Val817Leu) single nucleotide variant not specified [RCV004089381] Chr4:174977974 [GRCh38]
Chr4:175899125 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2426T>G (p.Met809Arg) single nucleotide variant not specified [RCV004259810] Chr4:174977951 [GRCh38]
Chr4:175899102 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2167C>T (p.Arg723Cys) single nucleotide variant not specified [RCV004325671] Chr4:174977692 [GRCh38]
Chr4:175898843 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.205G>A (p.Val69Ile) single nucleotide variant not specified [RCV004261888] Chr4:174975730 [GRCh38]
Chr4:175896881 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1956C>A (p.Asn652Lys) single nucleotide variant not specified [RCV004278878] Chr4:174977481 [GRCh38]
Chr4:175898632 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.983T>C (p.Ile328Thr) single nucleotide variant not specified [RCV004324328] Chr4:174976508 [GRCh38]
Chr4:175897659 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.941C>A (p.Ala314Glu) single nucleotide variant not specified [RCV004328627] Chr4:174976466 [GRCh38]
Chr4:175897617 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1588C>T (p.Arg530Cys) single nucleotide variant not specified [RCV004335212] Chr4:174977113 [GRCh38]
Chr4:175898264 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2307A>T (p.Gln769His) single nucleotide variant not specified [RCV004336897] Chr4:174977832 [GRCh38]
Chr4:175898983 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1 copy number loss not provided [RCV003485442] Chr4:171476330..184998011 [GRCh37]
Chr4:4q33-35.1
likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:167409608..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_014269.4(ADAM29):c.2271C>T (p.Ser757=) single nucleotide variant not provided [RCV003435208] Chr4:174977796 [GRCh38]
Chr4:175898947 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2295C>T (p.Pro765=) single nucleotide variant not provided [RCV003435210] Chr4:174977820 [GRCh38]
Chr4:175898971 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2292A>G (p.Thr764=) single nucleotide variant not provided [RCV003435209] Chr4:174977817 [GRCh38]
Chr4:175898968 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2454G>A (p.Thr818=) single nucleotide variant not provided [RCV003439554] Chr4:174977979 [GRCh38]
Chr4:175899130 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2304T>C (p.Ser768=) single nucleotide variant not provided [RCV003435211] Chr4:174977829 [GRCh38]
Chr4:175898980 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2325T>C (p.Ser775=) single nucleotide variant not provided [RCV003439553] Chr4:174977850 [GRCh38]
Chr4:175899001 [GRCh37]
Chr4:4q34.1
likely benign
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2
pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1 copy number loss not specified [RCV003986504] Chr4:175496275..186495932 [GRCh37]
Chr4:4q34.1-35.1
pathogenic
GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3 copy number gain not provided [RCV004442809] Chr4:172781617..182798652 [GRCh37]
Chr4:4q34.1-34.3
pathogenic
NM_014269.4(ADAM29):c.2168G>A (p.Arg723His) single nucleotide variant not specified [RCV004444244] Chr4:174977693 [GRCh38]
Chr4:175898844 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2113A>G (p.Lys705Glu) single nucleotide variant not specified [RCV004444236] Chr4:174977638 [GRCh38]
Chr4:175898789 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2180A>G (p.Glu727Gly) single nucleotide variant not specified [RCV004444249] Chr4:174977705 [GRCh38]
Chr4:175898856 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2411G>C (p.Arg804Thr) single nucleotide variant not specified [RCV004444261] Chr4:174977936 [GRCh38]
Chr4:175899087 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.932G>A (p.Arg311His) single nucleotide variant not specified [RCV004444274] Chr4:174976457 [GRCh38]
Chr4:175897608 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.1310G>A (p.Cys437Tyr) single nucleotide variant not specified [RCV004444201] Chr4:174976835 [GRCh38]
Chr4:175897986 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2200C>A (p.Pro734Thr) single nucleotide variant not specified [RCV004444252] Chr4:174977725 [GRCh38]
Chr4:175898876 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.310G>C (p.Gly104Arg) single nucleotide variant not specified [RCV004444266] Chr4:174975835 [GRCh38]
Chr4:175896986 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.628C>G (p.Leu210Val) single nucleotide variant not specified [RCV004444268] Chr4:174976153 [GRCh38]
Chr4:175897304 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.152G>C (p.Trp51Ser) single nucleotide variant not specified [RCV004444209] Chr4:174975677 [GRCh38]
Chr4:175896828 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_014269.4(ADAM29):c.2207T>C (p.Val736Ala) single nucleotide variant not specified [RCV004444254] Chr4:174977732 [GRCh38]
Chr4:175898883 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2241T>C (p.Pro747=) single nucleotide variant not provided [RCV003885760] Chr4:174977766 [GRCh38]
Chr4:175898917 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.1922A>T (p.His641Leu) single nucleotide variant not specified [RCV004444225] Chr4:174977447 [GRCh38]
Chr4:175898598 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:169060637..191154276 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NC_000004.11:g.(?_171788098)_(175916898_?)del deletion not provided [RCV004580861] Chr4:171788098..175916898 [GRCh37]
Chr4:4q33-34.1
uncertain significance
NM_014269.4(ADAM29):c.2327A>G (p.Gln776Arg) single nucleotide variant not specified [RCV004612717] Chr4:174977852 [GRCh38]
Chr4:175899003 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_014269.4(ADAM29):c.2062T>C (p.Phe688Leu) single nucleotide variant not specified [RCV004612739] Chr4:174977587 [GRCh38]
Chr4:175898738 [GRCh37]
Chr4:4q34.1
likely benign
NM_014269.4(ADAM29):c.2125G>C (p.Asp709His) single nucleotide variant not specified [RCV004612728] Chr4:174977650 [GRCh38]
Chr4:175898801 [GRCh37]
Chr4:4q34.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1756
Count of miRNA genes:695
Interacting mature miRNAs:784
Transcripts:ENST00000359240, ENST00000404450, ENST00000445694, ENST00000502305, ENST00000502940, ENST00000505141, ENST00000507652, ENST00000507969, ENST00000510280, ENST00000513477, ENST00000514159, ENST00000515538
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407043666GWAS692642_Hbreast carcinoma QTL GWAS692642 (human)4e-16mammary gland integrity trait (VT:0010552)4174925275174925276Human

Markers in Region
D4S515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,847,205 - 175,847,371UniSTSGRCh37
Build 364176,083,780 - 176,083,946RGDNCBI36
Celera4173,176,465 - 173,176,631RGD
Cytogenetic Map4q34UniSTS
HuRef4171,596,484 - 171,596,650UniSTS
TNG Radiation Hybrid Map4103929.0UniSTS


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
renal system
reproductive system
respiratory system
sensory system
465 1043 1342 1324 3259 701 1127 1 171 971 69 868 3219 3266 5 2809 412 1224 875 103

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF171929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF171930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU176889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB039551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB044176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB051105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB073142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB080702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC006768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC044545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000359240   ⟹   ENSP00000352177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,358 - 174,978,180 (+)Ensembl
Ensembl Acc Id: ENST00000404450   ⟹   ENSP00000384229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,406 - 174,978,180 (+)Ensembl
Ensembl Acc Id: ENST00000445694   ⟹   ENSP00000414544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,358 - 174,978,180 (+)Ensembl
Ensembl Acc Id: ENST00000502305   ⟹   ENSP00000422537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,372 - 174,975,657 (+)Ensembl
Ensembl Acc Id: ENST00000502940   ⟹   ENSP00000427674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,366 - 174,975,794 (+)Ensembl
Ensembl Acc Id: ENST00000505141   ⟹   ENSP00000427370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,358 - 174,975,568 (+)Ensembl
Ensembl Acc Id: ENST00000507652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,829,668 - 174,870,787 (+)Ensembl
Ensembl Acc Id: ENST00000507969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,829,689 - 174,931,174 (+)Ensembl
Ensembl Acc Id: ENST00000510280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,375 - 174,936,977 (+)Ensembl
Ensembl Acc Id: ENST00000513477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,358 - 174,931,398 (+)Ensembl
Ensembl Acc Id: ENST00000514159   ⟹   ENSP00000423517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,411 - 174,978,105 (+)Ensembl
Ensembl Acc Id: ENST00000515538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,406 - 174,975,402 (+)Ensembl
Ensembl Acc Id: ENST00000615367   ⟹   ENSP00000484862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,358 - 174,978,180 (+)Ensembl
Ensembl Acc Id: ENST00000618444   ⟹   ENSP00000478469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4174,918,358 - 174,978,180 (+)Ensembl
RefSeq Acc Id: NM_001130703   ⟹   NP_001124175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
GRCh374175,839,509 - 175,899,331 (+)RGD
Celera4173,168,616 - 173,228,548 (+)RGD
HuRef4171,588,769 - 171,648,620 (+)RGD
CHM1_14175,815,949 - 175,875,773 (+)NCBI
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130704   ⟹   NP_001124176
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
GRCh374175,839,509 - 175,899,331 (+)RGD
Celera4173,168,616 - 173,228,548 (+)RGD
HuRef4171,588,769 - 171,648,620 (+)RGD
CHM1_14175,815,949 - 175,875,773 (+)NCBI
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130705   ⟹   NP_001124177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
GRCh374175,839,509 - 175,899,331 (+)RGD
Celera4173,168,616 - 173,228,548 (+)RGD
HuRef4171,588,769 - 171,648,620 (+)RGD
CHM1_14175,815,949 - 175,875,773 (+)NCBI
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278125   ⟹   NP_001265054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
GRCh374175,839,509 - 175,899,331 (+)NCBI
HuRef4171,588,769 - 171,648,620 (+)NCBI
CHM1_14175,815,949 - 175,875,773 (+)NCBI
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278126   ⟹   NP_001265055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
GRCh374175,839,509 - 175,899,331 (+)NCBI
HuRef4171,588,769 - 171,648,620 (+)NCBI
CHM1_14175,815,949 - 175,875,773 (+)NCBI
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278127   ⟹   NP_001265056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
GRCh374175,839,509 - 175,899,331 (+)NCBI
HuRef4171,588,769 - 171,648,620 (+)NCBI
CHM1_14175,815,949 - 175,875,773 (+)NCBI
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014269   ⟹   NP_055084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
GRCh374175,839,509 - 175,899,331 (+)RGD
Build 364176,076,134 - 176,135,906 (+)NCBI Archive
Celera4173,168,616 - 173,228,548 (+)RGD
HuRef4171,588,769 - 171,648,620 (+)RGD
CHM1_14175,815,949 - 175,875,773 (+)NCBI
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531556   ⟹   XP_011529858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531557   ⟹   XP_011529859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531559   ⟹   XP_011529861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531560   ⟹   XP_011529862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531561   ⟹   XP_011529863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,358 - 174,978,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054348814   ⟹   XP_054204789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
RefSeq Acc Id: XM_054348815   ⟹   XP_054204790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
RefSeq Acc Id: XM_054348816   ⟹   XP_054204791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
RefSeq Acc Id: XM_054348817   ⟹   XP_054204792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
RefSeq Acc Id: XM_054348818   ⟹   XP_054204793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
RefSeq Acc Id: XM_054348819   ⟹   XP_054204794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04178,256,372 - 178,316,203 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001124175 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124176 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124177 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265054 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265055 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265056 (Get FASTA)   NCBI Sequence Viewer  
  NP_055084 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529858 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529859 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529861 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529862 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529863 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204791 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204793 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204794 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF03777 (Get FASTA)   NCBI Sequence Viewer  
  AAF03778 (Get FASTA)   NCBI Sequence Viewer  
  AAF22163 (Get FASTA)   NCBI Sequence Viewer  
  AAY41055 (Get FASTA)   NCBI Sequence Viewer  
  ADO22262 (Get FASTA)   NCBI Sequence Viewer  
  AEE60925 (Get FASTA)   NCBI Sequence Viewer  
  BAF85099 (Get FASTA)   NCBI Sequence Viewer  
  CBH19190 (Get FASTA)   NCBI Sequence Viewer  
  CBH30602 (Get FASTA)   NCBI Sequence Viewer  
  EAX04727 (Get FASTA)   NCBI Sequence Viewer  
  EAX04728 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000352177
  ENSP00000352177.3
  ENSP00000384229
  ENSP00000384229.3
  ENSP00000414544
  ENSP00000414544.1
  ENSP00000422537.1
  ENSP00000423517
  ENSP00000423517.1
  ENSP00000427370.1
  ENSP00000427674.1
  ENSP00000478469
  ENSP00000478469.1
  ENSP00000484862
  ENSP00000484862.1
GenBank Protein Q9UKF5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055084   ⟸   NM_014269
- Peptide Label: preproprotein
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124175   ⟸   NM_001130703
- Peptide Label: preproprotein
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124176   ⟸   NM_001130704
- Peptide Label: preproprotein
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124177   ⟸   NM_001130705
- Peptide Label: preproprotein
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265054   ⟸   NM_001278125
- Peptide Label: preproprotein
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265055   ⟸   NM_001278126
- Peptide Label: preproprotein
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265056   ⟸   NM_001278127
- Peptide Label: preproprotein
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529859   ⟸   XM_011531557
- Peptide Label: isoform X1
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529858   ⟸   XM_011531556
- Peptide Label: isoform X1
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529861   ⟸   XM_011531559
- Peptide Label: isoform X1
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529862   ⟸   XM_011531560
- Peptide Label: isoform X1
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529863   ⟸   XM_011531561
- Peptide Label: isoform X1
- UniProtKB: Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   Q9UKF5 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000352177   ⟸   ENST00000359240
Ensembl Acc Id: ENSP00000422537   ⟸   ENST00000502305
Ensembl Acc Id: ENSP00000427674   ⟸   ENST00000502940
Ensembl Acc Id: ENSP00000427370   ⟸   ENST00000505141
Ensembl Acc Id: ENSP00000384229   ⟸   ENST00000404450
Ensembl Acc Id: ENSP00000484862   ⟸   ENST00000615367
Ensembl Acc Id: ENSP00000414544   ⟸   ENST00000445694
Ensembl Acc Id: ENSP00000478469   ⟸   ENST00000618444
Ensembl Acc Id: ENSP00000423517   ⟸   ENST00000514159
RefSeq Acc Id: XP_054204791   ⟸   XM_054348816
- Peptide Label: isoform X1
- UniProtKB: Q9UKF5 (UniProtKB/Swiss-Prot),   Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204789   ⟸   XM_054348814
- Peptide Label: isoform X1
- UniProtKB: Q9UKF5 (UniProtKB/Swiss-Prot),   Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204790   ⟸   XM_054348815
- Peptide Label: isoform X1
- UniProtKB: Q9UKF5 (UniProtKB/Swiss-Prot),   Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204792   ⟸   XM_054348817
- Peptide Label: isoform X1
- UniProtKB: Q9UKF5 (UniProtKB/Swiss-Prot),   Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204793   ⟸   XM_054348818
- Peptide Label: isoform X1
- UniProtKB: Q9UKF5 (UniProtKB/Swiss-Prot),   Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204794   ⟸   XM_054348819
- Peptide Label: isoform X1
- UniProtKB: Q9UKF5 (UniProtKB/Swiss-Prot),   Q9UKF3 (UniProtKB/Swiss-Prot),   Q9UHP1 (UniProtKB/Swiss-Prot),   Q4W5F3 (UniProtKB/Swiss-Prot),   Q9UKF4 (UniProtKB/Swiss-Prot),   A0A140VJD8 (UniProtKB/TrEMBL)
Protein Domains
Disintegrin   EGF-like   Peptidase M12B

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UKF5-F1-model_v2 AlphaFold Q9UKF5 1-820 view protein structure

Promoters
RGD ID:6868942
Promoter ID:EPDNEW_H7636
Type:initiation region
Name:ADAM29_1
Description:ADAM metallopeptidase domain 29
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7637  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,918,406 - 174,918,466EPDNEW
RGD ID:6868944
Promoter ID:EPDNEW_H7637
Type:single initiation site
Name:ADAM29_2
Description:ADAM metallopeptidase domain 29
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7636  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,960,755 - 174,960,815EPDNEW
RGD ID:6802025
Promoter ID:HG_KWN:49502
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003IUE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364176,088,601 - 176,089,101 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:207 AgrOrtholog
COSMIC ADAM29 COSMIC
Ensembl Genes ENSG00000168594 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359240 ENTREZGENE
  ENST00000359240.7 UniProtKB/Swiss-Prot
  ENST00000404450 ENTREZGENE
  ENST00000404450.8 UniProtKB/Swiss-Prot
  ENST00000445694 ENTREZGENE
  ENST00000445694.5 UniProtKB/Swiss-Prot
  ENST00000502305.5 UniProtKB/TrEMBL
  ENST00000502940.1 UniProtKB/TrEMBL
  ENST00000505141.5 UniProtKB/TrEMBL
  ENST00000514159 ENTREZGENE
  ENST00000514159.1 UniProtKB/Swiss-Prot
  ENST00000615367 ENTREZGENE
  ENST00000615367.4 UniProtKB/Swiss-Prot
  ENST00000618444 ENTREZGENE
  ENST00000618444.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168594 GTEx
HGNC ID HGNC:207 ENTREZGENE
Human Proteome Map ADAM29 Human Proteome Map
InterPro ADAM_Cys-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M12B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M12B_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reprolysin_adamalysin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11086 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11086 ENTREZGENE
OMIM 604778 OMIM
PANTHER ADAM A DISINTEGRIN AND METALLOPROTEASE DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISINTEGRIN AND METALLOPROTEINASE DOMAIN-CONTAINING PROTEIN 29 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADAM_CR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Disintegrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pep_M12B_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reprolysin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24524 PharmGKB
PRINTS DISINTEGRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADAM_MEPRO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISINTEGRIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISINTEGRIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
SMART ACR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57552 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJD8 ENTREZGENE, UniProtKB/TrEMBL
  ADA29_HUMAN UniProtKB/Swiss-Prot
  D6RBU0_HUMAN UniProtKB/TrEMBL
  D6RHU0_HUMAN UniProtKB/TrEMBL
  D6RIU9_HUMAN UniProtKB/TrEMBL
  Q4W5F3 ENTREZGENE
  Q9UHP1 ENTREZGENE
  Q9UKF3 ENTREZGENE
  Q9UKF4 ENTREZGENE
  Q9UKF5 ENTREZGENE
UniProt Secondary Q4W5F3 UniProtKB/Swiss-Prot
  Q9UHP1 UniProtKB/Swiss-Prot
  Q9UKF3 UniProtKB/Swiss-Prot
  Q9UKF4 UniProtKB/Swiss-Prot