MARRVEL: Search Result

Human Gene Description (OMIM)

Gene-Phenotype RelationshipsOMIM

Reported Alleles from OMIMNDP

Control Population Gene Summary (gnomAD database)

Control Population Gene Summary

Allele count
Allele number
Homozygous count
Allele frequency
Gene

Disease Population (Geno2MP database)NDP

Reported Alleles from ClinVarNDP

Copy Number Variation in Control Population (DGV Database)NDP

Position	Size	Type	Subtype	Frequency	Gain	Loss	Sample Size	References	Genes
No data available in table

Gene Function TableNDP

Show only best DIOPTv6 score gene

	Homolog	DIOPT Score	Expression	Molecular function	Cellular component	Biological process
Human	NDP	NA	No data available	frizzled binding protein binding protein homodimerization activity	extracellular space cell surface extracellular matrix	Wnt signaling pathway positive regulation of transcription, DNA-templated canonical Wnt signaling pathway
Mouse	Ndp	9/13	nervous system auditory system visual system olfactory system	frizzled binding cytokine activity	No term based on experiment	placenta development extracellular matrix-cell signaling positive regulation of sequence-specific DNA binding transcription factor activity canonical Wnt signaling pathway retina vasculature morphogenesis in camera-type eye
Zebrafish	ndp	9/12	No structure expressed in wild-type	No term based on experiment	No term based on experiment	No term based on experiment

Human Gene Protein DomainsDIOPT v6NDP

Index	Domain name	Domain start	Domain stop	Domain description	Protein ID	External ID
hs1	CT	43	129	C-terminal cystine knot-like domain (CTCK); smart00041	NP_000257.1	CDD:214482

Multiple Protein AlignmentDIOPT v6NDP

hs1 --------------------------------------------------MRKHVLAASFSMLSLLV------IMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLAR[64] mm1 --------------------------------------------------MRNHVLAASISMLSLLA------IMGDTDSKTDSSFLMDS--QRCMRHHYVDSISHPLYKCSSKMVLLAR[62] rn1 --------------------------------------------------MRNHVLAASISMLSLLA------IMGDTDSKTDSSFLMDS--QRCMRHHYVDSISHPLYKCSSKMVLLAR[62] rn2 --------------------------------------------------MRNHVLAASISMLSLLA------IMGDTDSKTDSSFLMDS--QRCMRHHYVDSISHPLYKCSSKMVLLAR[62] dr1 MGERSKGNCCLRNFISVLEEPAGIGYCRLNGTRLKTHPDHSRRWLSLTNTMRNSVALSQPGILLLLVTCPLLTILQGVTCKAESGHLGDNDPDRCMRHHFVETITHPIYKCNSKMVLLAR[120] * : * : . * **. *: .. * ...: :. ******:*::*.** :**.:******* hs1 CEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS[133] mm1 CEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECSS[131] rn1 CEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECSS[131] rn2 CEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECSS[131] dr1 CEGHCSHTSRSDPLISFSSVLKQPFKNTCFCCRPHTSKLKAVRLRCSGGTRITATYRYILACSCEECS-[188] ***:**::***:**:***:******:.:*.****:******:******* *:********:* ****.

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