CalX-beta domain family

SCOP classification

• Root: SCOP hierarchy in SUPERFAMILY [ 0] (11)
• Class: All beta proteins [ 48724] (174)
• Fold: Immunoglobulin-like beta-sandwich [ 48725] (28)
• Superfamily: CalX-like [ 141072]
• Family: CalX-beta domain [ 141073]

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Family statistics

	Genomes (137)	Uniprot 2018_03 genome	PDB chains (SCOP 1.75)
Domains	824	3,501	3
Proteins	461	2,491	3

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Human Phenotype (HP)

Highlighted in gray are those with FDR_all>0.001

	HP term	FDR (all)	IC level	SDHP level	Annotation (direct or inherited)
Mode of Inheritance (MI)	Autosomal recessive inheritance	0	0.2218	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of head or neck	0	0.4454	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the mouth	0	0.7065	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the head	0	0.4538	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nervous system	0	0.2371	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the skeletal system	0	0.4712	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the foot	0	1.082	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal appendicular skeleton morphology	0	0.8289	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal oral morphology	0	0.7381	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of limb bone	0	0.9572	--	DIRECT
Phenotypic Abnormality (PA)	Cryptophthalmos	0.0000000008287	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Anal stenosis	0.0000004744	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Ectopic anus	0.0000007368	2.161	--	DIRECT
Phenotypic Abnormality (PA)	Anophthalmia	0.000001383	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Omphalocele	0.000003191	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal vagina morphology	0.00001749	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the eyelid	0.00004458	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal nasolacrimal system morphology	0.00008041	2.161	--	DIRECT
Phenotypic Abnormality (PA)	Microphthalmia	0.0002506	2.161	--	DIRECT
Phenotypic Abnormality (PA)	Abdominal wall defect	0.002317	1.86	--	INHERITED FROM: Omphalocele
Phenotypic Abnormality (PA)	Abnormal eyelid morphology	0.004603	1.232	--	INHERITED FROM: Aplasia/Hypoplasia of the eyelid || Cryptophthalmos
Phenotypic Abnormality (PA)	Morphological abnormality of the gastrointestinal tract	0.005091	1.184	--	INHERITED FROM: Anal stenosis || Abnormality of the anus || Ectopic anus
Phenotypic Abnormality (PA)	Abnormality of female internal genitalia	0.006379	1.258	--	INHERITED FROM: Abnormal vagina morphology
Phenotypic Abnormality (PA)	Abnormality of the abdominal wall	0.007098	1.763	--	INHERITED FROM: Omphalocele
Phenotypic Abnormality (PA)	Abnormality of the ocular adnexa	0.008842	1.082	--	INHERITED FROM: Cryptophthalmos || Aplasia/Hypoplasia of the eyelid || Abnormal lacrimal duct morphology || Abnormal nasolacrimal system morphology
Phenotypic Abnormality (PA)	Abnormality of the genital system	0.01442	0.9309	--	INHERITED FROM: Abnormal vagina morphology
Phenotypic Abnormality (PA)	Abnormal nasal morphology	0.02385	1.763	--	INHERITED FROM: Midline defect of the nose
Phenotypic Abnormality (PA)	Abnormal eye morphology	0.06149	0.7812	--	INHERITED FROM: Microphthalmia || Anophthalmia
Phenotypic Abnormality (PA)	Abnormality of the orbital region	0.08636	1.082	--	INHERITED FROM: Abnormal lacrimal duct morphology || Abnormal nasolacrimal system morphology || Aplasia/Hypoplasia of the eyelid || Cryptophthalmos
Phenotypic Abnormality (PA)	Abnormal internal genitalia	0.1232	1.232	--	INHERITED FROM: Abnormal vagina morphology
Phenotypic Abnormality (PA)	Abnormality of the female genitalia	0.1285	1.207	--	INHERITED FROM: Abnormal vagina morphology
Phenotypic Abnormality (PA)	Abnormality of the face	0	0.533	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of skeletal morphology	0	0.513	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of limbs	0	0.6429	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the genitourinary system	0.08465	0.6051	Least Informative	INHERITED FROM: Abnormal vagina morphology
Phenotypic Abnormality (PA)	Abnormality of the digestive system	0.1199	0.5759	Least Informative	INHERITED FROM: Abnormality of the anus || Anal stenosis || Omphalocele || Ectopic anus
Phenotypic Abnormality (PA)	Abnormality of the eye	0.147	0.5703	Least Informative	INHERITED FROM: Microphthalmia || Anophthalmia
Phenotypic Abnormality (PA)	Abnormality of limb bone morphology	0	0.9572	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the lower limb	0	0.9309	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of connective tissue	0	1.031	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of digestive system morphology	0.005091	1.184	Moderately Informative	INHERITED FROM: Anal stenosis || Abnormality of the anus || Ectopic anus
Phenotypic Abnormality (PA)	Abnormal ocular adnexa morphology	0.008288	1.082	Moderately Informative	INHERITED FROM: Cryptophthalmos || Aplasia/Hypoplasia of the eyelid || Abnormal nasolacrimal system morphology || Abnormal lacrimal duct morphology
Phenotypic Abnormality (PA)	Abnormal reproductive system morphology	0.009577	1.031	Moderately Informative	INHERITED FROM: Abnormal vagina morphology
Phenotypic Abnormality (PA)	Abnormality of the gastrointestinal tract	0.01614	1.031	Moderately Informative	INHERITED FROM: Ectopic anus || Anal stenosis || Abnormality of the anus
Phenotypic Abnormality (PA)	Anorectal anomaly	0.01716	1.684	Informative	INHERITED FROM: Anal stenosis || Abnormality of the anus || Ectopic anus
Phenotypic Abnormality (PA)	Hernia	0.1408	1.617	Informative	INHERITED FROM: Omphalocele
Phenotypic Abnormality (PA)	Abnormality of the nose	0.4104	1.258	Informative	INHERITED FROM: Midline defect of the nose
Phenotypic Abnormality (PA)	Midline defect of the nose	0.00000002663	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal lacrimal duct morphology	0.0000001984	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the anus	0.0001085	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of globe size	0.00171	2.161	Highly Informative	INHERITED FROM: Microphthalmia || Anophthalmia
Phenotypic Abnormality (PA)	Hernia of the abdominal wall	0.002258	1.86	Highly Informative	INHERITED FROM: Omphalocele
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia affecting the eye	0.007288	1.86	Highly Informative	INHERITED FROM: Anophthalmia || Microphthalmia

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Mouse Phenotype (MP)

Highlighted in gray are those with FDR_all>0.001

	MP term	FDR (all)	IC level	SDMP level	Annotation (direct or inherited)
Mammalian Phenotype (MP)	cryptophthalmos	0.0000000007799	2.603	--	DIRECT
Mammalian Phenotype (MP)	absent eyelids	0.00000007278	2.302	--	DIRECT
Mammalian Phenotype (MP)	bleb	0.000003672	2.603	--	DIRECT
Mammalian Phenotype (MP)	absent kidney	0.00000547	2.603	--	DIRECT
Mammalian Phenotype (MP)	polydactyly	0.00004986	2.302	--	DIRECT
Mammalian Phenotype (MP)	syndactyly	0.00005363	2.302	--	DIRECT
Mammalian Phenotype (MP)	craniofacial phenotype	0.0009039	1.047	--	DIRECT
Mammalian Phenotype (MP)	abnormal digit morphology	0.0009234	1.603	--	DIRECT
Mammalian Phenotype (MP)	vision/eye phenotype	0.003969	0.8789	--	INHERITED FROM: absent eyelids || microphthalmia || cryptophthalmos
Mammalian Phenotype (MP)	abnormal eye size	0.004223	1.904	--	INHERITED FROM: microphthalmia
Mammalian Phenotype (MP)	renal/urinary system phenotype	0.00983	0.931	--	INHERITED FROM: absent kidney
Mammalian Phenotype (MP)	abnormal limb morphology	0.0158	1.281	--	INHERITED FROM: syndactyly || abnormal digit morphology || polydactyly
Mammalian Phenotype (MP)	integument phenotype	0.04618	0.797	--	INHERITED FROM: blistering || bleb || abnormal skin appearance
Mammalian Phenotype (MP)	abnormal kidney morphology	0.8018	1.156	--	INHERITED FROM: absent kidney
Mammalian Phenotype (MP)	abnormal craniofacial morphology	0.0008873	1.047	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal renal/urinary system morphology	0.00408	1.047	Moderately Informative	INHERITED FROM: absent kidney
Mammalian Phenotype (MP)	abnormal skin morphology	0.004533	1.188	Moderately Informative	INHERITED FROM: blistering || bleb || abnormal skin appearance
Mammalian Phenotype (MP)	limbs/digits/tail phenotype	0.02983	1.188	Moderately Informative	INHERITED FROM: polydactyly || abnormal digit morphology || syndactyly
Mammalian Phenotype (MP)	abnormal eye morphology	0.7714	0.9129	Moderately Informative	INHERITED FROM: microphthalmia || cryptophthalmos || absent eyelids
Mammalian Phenotype (MP)	abnormal skin appearance	0.0004791	1.524	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal autopod morphology	0.001736	1.524	Informative	INHERITED FROM: polydactyly || abnormal digit morphology || syndactyly
Mammalian Phenotype (MP)	abnormal eyelid morphology	0.00924	1.7	Informative	INHERITED FROM: absent eyelids || cryptophthalmos
Mammalian Phenotype (MP)	microphthalmia	0.0002261	1.904	Highly Informative	DIRECT
Mammalian Phenotype (MP)	blistering	0.0003057	2.001	Highly Informative	DIRECT

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Worm Phenotype (WP)

Highlighted in gray are those with FDR_all>0.001

	WP term	FDR (all)	IC level	SDWP level	Annotation (direct or inherited)
Worm Phenotype (WP)	postembryonic development variant	0	0.269	--	DIRECT
Worm Phenotype (WP)	embryonic lethal	0	0.046	--	DIRECT
Worm Phenotype (WP)	lethal	0	0.00521	--	DIRECT
Worm Phenotype (WP)	fertility variant	0	0.05937	--	DIRECT
Worm Phenotype (WP)	development variant	0	0.001482	--	DIRECT
Worm Phenotype (WP)	morphology variant	0	0.046	--	DIRECT
Worm Phenotype (WP)	organism development variant	0	0.00297	--	DIRECT
Worm Phenotype (WP)	organism morphology variant	0	0.1372	--	DIRECT
Worm Phenotype (WP)	organ system physiology variant	0	0.04518	--	DIRECT
Worm Phenotype (WP)	reproductive system physiology variant	0	0.05515	--	DIRECT
Worm Phenotype (WP)	maternal sterile	0	0.1213	--	DIRECT
Worm Phenotype (WP)	hermaphrodite sterile	0	0.1203	--	DIRECT
Worm Phenotype (WP)	embryonic development variant	0	0.04518	--	DIRECT
Worm Phenotype (WP)	hermaphrodite fertility variant	0	0.0947	--	DIRECT
Worm Phenotype (WP)	hermaphrodite fertility reduced	0	0.1193	--	DIRECT
Worm Phenotype (WP)	fertility reduced	0	0.06449	--	DIRECT
Worm Phenotype (WP)	physiology variant	1	0	--	INHERITED FROM: hermaphrodite fertility variant || reproductive system physiology variant || lethal || development variant || hermaphrodite sterile || hermaphrodite fertility reduced || embryonic development variant || embryonic lethal || fertility variant || postembryonic development variant || organ system physiology variant || maternal sterile || organism development variant || fertility reduced
Worm Phenotype (WP)	sterile	1	0.1135	--	INHERITED FROM: hermaphrodite sterile || maternal sterile

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Zebrafish Anatomy (ZA)

Highlighted in gray are those with FDR_all>0.001

	ZA term	FDR (all)	IC level	SDZA level	Annotation (direct or inherited)
Zebrafish Anatomy (ZA)	compound organ	0	0.4299	--	DIRECT
Zebrafish Anatomy (ZA)	whole organism	0	0.00147	--	DIRECT
Zebrafish Anatomy (ZA)	anatomical system	0	0.1857	--	DIRECT
Zebrafish Anatomy (ZA)	anatomical group	0	0.1532	--	DIRECT
Zebrafish Anatomy (ZA)	anatomical structure	1	0	--	INHERITED FROM: anatomical system || multi-tissue structure || anatomical cluster || anatomical group || whole organism || organism subdivision || compound organ || cavitated compound organ
Zebrafish Anatomy (ZA)	organism subdivision	0	0.614	Least Informative	DIRECT
Zebrafish Anatomy (ZA)	anatomical cluster	0	0.7389	Least Informative	DIRECT
Zebrafish Anatomy (ZA)	multi-tissue structure	0	0.5848	Least Informative	DIRECT
Zebrafish Anatomy (ZA)	cavitated compound organ	0	0.5123	Least Informative	DIRECT

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Xenopus Anatomy (XA)

Highlighted in gray are those with FDR_all>0.001

	XA term	FDR (all)	IC level	SDXA level	Annotation (direct or inherited)
Xenopus ANatomical entity (XAN)	anatomical structure	0	0	--	DIRECT
Xenopus DEvelopment stage (XDE)	NF stage	0	0.01895	--	DIRECT

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